chr4:54733155:A>T Detail (hg38) (KIT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:55,599,321-55,599,321 View the variant detail on this assembly version. |
hg38 | chr4:54,733,155-54,733,155 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000222.2:c.2447A>T | NP_000213.1:p.Asp816Val |
NM_001093772.1:c.2435A>T | NP_001087241.1:p.Asp812Val | |
Ensemble | ENST00000686011.1:c.2432A>T | ENST00000686011.1:p.Asp811Val |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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t(8;21) acute myeloid leukemia |
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MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2015-07-14 | no assertion criteria provided | Mast cell leukemia |
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Detail |
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2022-11-01 | criteria provided, single submitter | gastrointestinal stromal tumor |
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Detail |
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2016-05-13 | no assertion criteria provided | Hematologic neoplasm |
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Detail |
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2016-03-10 | no assertion criteria provided | acute myeloid leukemia |
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Detail |
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2016-05-01 | no assertion criteria provided | dysgerminoma |
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Detail |
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2001-08-15 | no assertion criteria provided | MAST CELL LEUKEMIA, SOMATIC |
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Detail |
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2001-08-15 | no assertion criteria provided | MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC |
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Detail |
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2001-08-15 | no assertion criteria provided | MASTOCYTOSIS, SYSTEMIC, SOMATIC |
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Detail |
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2021-08-31 | criteria provided, conflicting interpretations | cutaneous mastocytosis |
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Detail |
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2014-11-24 | criteria provided, single submitter | not provided |
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Detail |
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2020-06-12 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
systemic mastocytosis | Midostaurin | B |
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Sensitivity/Response | Somatic | 4 | 27355533 | Detail |
systemic mastocytosis | B |
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Poor Outcome | Somatic | 4 | 26464169 | Detail | |
cancer | Imatinib | D |
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Resistance | Somatic | 2 | 14645423 | Detail |
acute myeloid leukemia | B |
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Poor Outcome | Somatic | 4 | 16384925 | Detail | |
cancer | Dasatinib,Imatinib | C |
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Resistance | Somatic | 2 | 25317746 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.126 | Leukemia, Mast-Cell | Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nu... | BeFree | 24552773 | Detail |
0.118 | mastocytosis | Together, the biologic effects of KIT D816V in BaF3 cells match strikingly with ... | BeFree | 18390729 | Detail |
0.001 | chronic eosinophilic leukemia | The broad and overlapping clinical manifestations of D816V KIT-associated system... | BeFree | 17628645 | Detail |
<0.001 | Mastocytosis, Systemic | The presence of the KIT D816V mutation in the CBF AML subgroup can therefore not... | BeFree | 22145956 | Detail |
0.001 | Eosinophilia | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... | BeFree | 26017288 | Detail |
0.760 | Gastrointestinal Stromal Tumors | Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are h... | BeFree | 16912224 | Detail |
0.001 | Eosinophilia | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... | BeFree | 26017288 | Detail |
0.126 | Leukemia, Mast-Cell | Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leu... | BeFree | 15972446 | Detail |
0.281 | Mastocytosis, Systemic | KIT GNNK splice variants: expression in systemic mastocytosis and influence on t... | BeFree | 23743299 | Detail |
0.281 | Mastocytosis, Systemic | An immature immunophenotype of bone marrow mast cells predicts for multilineage ... | BeFree | 22051531 | Detail |
0.281 | Mastocytosis, Systemic | The KIT D816V mutation is frequently found in systemic mastocytosis, but it has ... | BeFree | 23388130 | Detail |
0.134 | chronic eosinophilic leukemia | KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... | BeFree | 17628645 | Detail |
<0.001 | Mastocytosis, Systemic | Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC... | BeFree | 22051531 | Detail |
0.281 | Mastocytosis, Systemic | Our findings warrant a clinical trial of ponatinib in patients with systemic mas... | BeFree | 24552773 | Detail |
0.760 | Gastrointestinal Stromal Tumors | A KIT mutation was identified in six cases (67%), including three with the D816V... | BeFree | 24128084 | Detail |
0.281 | Mastocytosis, Systemic | Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test... | BeFree | 25582384 | Detail |
0.006 | Mastocytosis, Systemic | Morphologically occult involvement of normal-appearing BM by SM will be missed w... | BeFree | 26276780 | Detail |
0.006 | Mastocytosis, Systemic | KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... | BeFree | 17628645 | Detail |
0.001 | Eosinophilia | KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... | BeFree | 17628645 | Detail |
0.281 | Mastocytosis, Systemic | We recently introduced the D816V+ allele fraction as a disease marker in SM usin... | BeFree | 23621866 | Detail |
0.281 | Mastocytosis, Systemic | Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis:... | BeFree | 19893034 | Detail |
<0.001 | Small Lymphocytic Lymphoma | The KIT mutation D816V was detected in sorted CD34(+) cells and unfractionated m... | BeFree | 18448146 | Detail |
0.001 | aggressive systemic mastocytosis | A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggr... | BeFree | 24989799 | Detail |
<0.001 | Mastocytosis, Systemic | If positive in BM, the KIT D816V mutation was found in PB of all patients with a... | BeFree | 24281161 | Detail |
0.019 | urticaria pigmentosa | High frequency of concomitant mastocytosis in patients with acute myeloid leukem... | BeFree | 20471335 | Detail |
0.281 | Mastocytosis, Systemic | In most patients with systemic mastocytosis (SM), including aggressive SM and ma... | BeFree | 16189265 | Detail |
0.001 | Eosinophilic disorder | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... | BeFree | 26017288 | Detail |
0.281 | Mastocytosis, Systemic | Systemic mastocytosis involving the gastrointestinal tract is associated with th... | BeFree | 18931652 | Detail |
<0.001 | urticaria pigmentosa | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... | BeFree | 25912132 | Detail |
0.019 | urticaria pigmentosa | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... | BeFree | 23807778 | Detail |
0.281 | Mastocytosis, Systemic | Morphologically occult involvement of normal-appearing BM by SM will be missed w... | BeFree | 26276780 | Detail |
0.281 | Mastocytosis, Systemic | The Asp816Val mutation in the catalytic domain of the c-kit receptor has been id... | BeFree | 9827716 | Detail |
0.281 | Mastocytosis, Systemic | The C-KIT mutation Asp-816-Val confirmed the diagnosis of SM. | BeFree | 12007509 | Detail |
0.281 | Mastocytosis, Systemic | To conclude, the KIT D816V burden correlates with the variant of mastocytosis, p... | BeFree | 24750133 | Detail |
0.281 | Mastocytosis, Systemic | KIT-D816V-independent oncogenic signaling in neoplastic cells in systemic mastoc... | BeFree | 21680801 | Detail |
0.118 | mastocytosis | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... | BeFree | 25912132 | Detail |
0.301 | Leukemia, Myelocytic, Acute | Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively... | BeFree | 12393643 | Detail |
0.001 | chronic eosinophilic leukemia | The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototyp... | BeFree | 22449623 | Detail |
0.134 | chronic eosinophilic leukemia | The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototyp... | BeFree | 22449623 | Detail |
0.118 | mastocytosis | The KIT D816V allele burden predicts survival in patients with mastocytosis and ... | BeFree | 24750133 | Detail |
0.019 | urticaria pigmentosa | Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively... | BeFree | 12393643 | Detail |
0.118 | mastocytosis | Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocyto... | BeFree | 24443360 | Detail |
0.019 | urticaria pigmentosa | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... | BeFree | 25912132 | Detail |
0.281 | Mastocytosis, Systemic | GEP analyses were performed by using DNA-oligonucleotide microarrays in highly p... | BeFree | 23403045 | Detail |
0.019 | urticaria pigmentosa | Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V a... | BeFree | 17065430 | Detail |
0.007 | Mastocytosis, Systemic | The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototyp... | BeFree | 22449623 | Detail |
0.118 | mastocytosis | Pediatric mastocytosis is a clonal disease associated with D816V and other activ... | BeFree | 19865100 | Detail |
0.118 | mastocytosis | Although the KIT D816V mutation is typically found in adult-onset mastocytosis, ... | BeFree | 24128084 | Detail |
0.006 | Mastocytosis, Systemic | Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC... | BeFree | 22051531 | Detail |
0.001 | urticaria pigmentosa | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... | BeFree | 25912132 | Detail |
0.019 | urticaria pigmentosa | Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val... | BeFree | 16352739 | Detail |
<0.001 | urticaria pigmentosa | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... | BeFree | 25912132 | Detail |
0.281 | Mastocytosis, Systemic | The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototyp... | BeFree | 22449623 | Detail |
0.019 | urticaria pigmentosa | ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mas... | BeFree | 24677542 | Detail |
0.019 | urticaria pigmentosa | These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD1... | BeFree | 11493470 | Detail |
<0.001 | Mastocytosis, Systemic | If positive in BM, the KIT D816V mutation was found in PB of all patients with a... | BeFree | 24281161 | Detail |
0.001 | benign mastocytoma | We tested this hypothesis on a BaF/3 cell line modified to express either KIT wi... | BeFree | 23127495 | Detail |
<0.001 | mastocytosis | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... | BeFree | 25912132 | Detail |
0.281 | Mastocytosis, Systemic | Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding fa... | BeFree | 22145956 | Detail |
<0.001 | Mastocytosis, Systemic | Control experiments showed that 10 indolent SM patients without associated MPD d... | BeFree | 18165278 | Detail |
0.001 | Eosinophilic disorder | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... | BeFree | 26017288 | Detail |
0.281 | Mastocytosis, Systemic | Six other patients reported symptomatic improvement, including two with D816V KI... | BeFree | 19193436 | Detail |
0.004 | urticaria pigmentosa | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... | BeFree | 25912132 | Detail |
0.001 | Mastocytoma | We tested this hypothesis on a BaF/3 cell line modified to express either KIT wi... | BeFree | 23127495 | Detail |
0.004 | core binding factor acute myeloid leukemia | Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding fa... | BeFree | 22145956 | Detail |
0.019 | urticaria pigmentosa | The reason for this decreased sensitivity to TKIs is related to the resistance o... | BeFree | 22204765 | Detail |
0.281 | Mastocytosis, Systemic | KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... | BeFree | 17628645 | Detail |
0.002 | mastocytosis | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... | BeFree | 25912132 | Detail |
0.019 | urticaria pigmentosa | Although the KIT D816V mutation is typically found in adult-onset mastocytosis, ... | BeFree | 24128084 | Detail |
0.019 | urticaria pigmentosa | Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytos... | BeFree | 23777495 | Detail |
<0.001 | Hypereosinophilia | KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of ... | BeFree | 26017288 | Detail |
0.281 | Mastocytosis, Systemic | Cooperating genetic events are likely to contribute to the phenotypic diversity ... | BeFree | 21134978 | Detail |
0.281 | Mastocytosis, Systemic | In a majority of all patients with systemic mastocytosis (SM) including those wi... | BeFree | 18024392 | Detail |
0.118 | mastocytosis | For those malignancies associated with KIT mutation or over-expression, imatinib... | BeFree | 16183119 | Detail |
0.006 | Mastocytosis, Systemic | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... | BeFree | 23807778 | Detail |
0.002 | mastocytosis | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... | BeFree | 23807778 | Detail |
0.019 | urticaria pigmentosa | For those malignancies associated with KIT mutation or over-expression, imatinib... | BeFree | 16183119 | Detail |
<0.001 | Hypereosinophilia | KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of ... | BeFree | 26017288 | Detail |
0.118 | mastocytosis | ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mas... | BeFree | 24677542 | Detail |
0.118 | mastocytosis | Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V a... | BeFree | 17065430 | Detail |
0.281 | Mastocytosis, Systemic | ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mas... | BeFree | 24677542 | Detail |
0.281 | Mastocytosis, Systemic | To gain better insight into clinical characteristics, we compared these cases wi... | BeFree | 26017288 | Detail |
0.281 | Mastocytosis, Systemic | Investigation for presence of the activating KIT point mutation D816V is very he... | BeFree | 20616612 | Detail |
0.003 | Hypereosinophilia | We therefore investigated 426 samples from patients with hypereosinophilia of un... | BeFree | 26017288 | Detail |
<0.001 | Disorder of intra-abdominal lymph nodes | To gain better insight into clinical characteristics, we compared these cases wi... | BeFree | 26017288 | Detail |
<0.001 | Allergic disposition | Our data show that KIT D816V is a disease-propagating oncoprotein, but it does n... | BeFree | 24677542 | Detail |
0.118 | mastocytosis | Whereas in pediatric mastocytosis, which is usually confined to the skin, a numb... | BeFree | 21083038 | Detail |
0.019 | leukemia | In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) ... | BeFree | 20553795 | Detail |
0.019 | leukemia | Additionally, dasatinib induced apoptosis in mast cell and leukemia cell lines e... | BeFree | 18986703 | Detail |
0.281 | Mastocytosis, Systemic | Moreover, MCL-1 was detectable in both subclones of the MC line HMC-1--HMC-1.1 c... | BeFree | 17110460 | Detail |
0.004 | urticaria pigmentosa | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... | BeFree | 23807778 | Detail |
0.019 | urticaria pigmentosa | Sensitive detection of KIT D816V in patients with mastocytosis. | BeFree | 17040960 | Detail |
0.118 | mastocytosis | High frequency of concomitant mastocytosis in patients with acute myeloid leukem... | BeFree | 20471335 | Detail |
<0.001 | Mastocytosis, Systemic | Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remo... | BeFree | 21457934 | Detail |
0.003 | Mastocytosis, Systemic | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... | BeFree | 23807778 | Detail |
0.001 | Disorder characterized by eosinophilia | KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... | BeFree | 17628645 | Detail |
0.118 | mastocytosis | Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively... | BeFree | 12393643 | Detail |
0.118 | mastocytosis | The reason for this decreased sensitivity to TKIs is related to the resistance o... | BeFree | 22204765 | Detail |
0.118 | mastocytosis | These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD1... | BeFree | 11493470 | Detail |
0.001 | Eosinophilic disorder | KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... | BeFree | 17628645 | Detail |
0.281 | Mastocytosis, Systemic | Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remo... | BeFree | 21457934 | Detail |
0.019 | urticaria pigmentosa | The KIT D816V allele burden predicts survival in patients with mastocytosis and ... | BeFree | 24750133 | Detail |
0.001 | urticaria pigmentosa | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... | BeFree | 23807778 | Detail |
0.281 | Mastocytosis, Systemic | We found that the D816V-mutated variant of KIT, a TK detectable in most patients... | BeFree | 18390729 | Detail |
0.118 | mastocytosis | Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val... | BeFree | 16352739 | Detail |
0.019 | urticaria pigmentosa | Whereas in pediatric mastocytosis, which is usually confined to the skin, a numb... | BeFree | 21083038 | Detail |
0.002 | mastocytosis | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... | BeFree | 25912132 | Detail |
0.126 | Leukemia, Mast-Cell | NA | CLINVAR | Detail | |
0.019 | urticaria pigmentosa | Pediatric mastocytosis is a clonal disease associated with D816V and other activ... | BeFree | 19865100 | Detail |
0.003 | Mastocytosis, Systemic | Morphologically occult involvement of normal-appearing BM by SM will be missed w... | BeFree | 26276780 | Detail |
0.118 | mastocytosis | Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytos... | BeFree | 23777495 | Detail |
0.003 | mast cell neoplasm | We tested this hypothesis on a BaF/3 cell line modified to express either KIT wi... | BeFree | 23127495 | Detail |
0.281 | Mastocytosis, Systemic | Molecular profiling of myeloid progenitor cells in multi-mutated advanced system... | BeFree | 25567135 | Detail |
0.135 | chronic eosinophilic leukemia | The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototyp... | BeFree | 22449623 | Detail |
0.126 | Leukemia, Mast-Cell | Ponatinib was found to inhibit the kinase activity of KIT G560V and KIT D816V in... | BeFree | 23539538 | Detail |
<0.001 | Microphthalmos | We found that the D816V-mutated variant of KIT, a TK detectable in most patients... | BeFree | 18390729 | Detail |
0.301 | Leukemia, Myelocytic, Acute | High frequency of concomitant mastocytosis in patients with acute myeloid leukem... | BeFree | 20471335 | Detail |
0.118 | mastocytosis | Sensitive detection of KIT D816V in patients with mastocytosis. | BeFree | 17040960 | Detail |
0.006 | Leukemia, Myelocytic, Acute | The presence of the KIT D816V mutation in the CBF AML subgroup can therefore not... | BeFree | 22145956 | Detail |
0.002 | indolent systemic mastocytosis | Serum tryptase correlates with the KIT D816V mutation burden in adults with indo... | BeFree | 23621866 | Detail |
0.002 | indolent systemic mastocytosis | KIT D816V mutation burden does not correlate to clinical manifestations of indol... | BeFree | 23587333 | Detail |
0.281 | Mastocytosis, Systemic | D816V KIT mutation, found in ∼80% of SM, is resistant to the currently available... | BeFree | 25088577 | Detail |
0.281 | Mastocytosis, Systemic | These findings demonstrate that the ACB-PCR assay combined with ESMA is a rapid ... | BeFree | 17040960 | Detail |
0.281 | Mastocytosis, Systemic | KIT D816V mutation has been observed in more than 90% of patients with systemic ... | BeFree | 20038218 | Detail |
0.281 | Mastocytosis, Systemic | In summary, our data show that KIT D816V in AML is highly associated with co-exi... | BeFree | 20471335 | Detail |
0.301 | Leukemia, Myelocytic, Acute | Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V a... | BeFree | 17065430 | Detail |
0.281 | Mastocytosis, Systemic | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... | BeFree | 23807778 | Detail |
0.281 | Mastocytosis, Systemic | Improved detection of the KIT D816V mutation in patients with systemic mastocyto... | BeFree | 21354053 | Detail |
0.019 | urticaria pigmentosa | Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocyto... | BeFree | 24443360 | Detail |
0.002 | indolent systemic mastocytosis | Based on all these results, it is hypothesized that KIT D816V as a single hit ma... | BeFree | 18390729 | Detail |
0.281 | Mastocytosis, Systemic | INNO-406 was found to inhibit proliferation in HMC-1.1 cells (IC(50): 30-40 nM),... | BeFree | 20685234 | Detail |
0.281 | Mastocytosis, Systemic | The high frequency of KIT(D816V) in neoplastic mast cells and leukaemic myelomon... | BeFree | 20112369 | Detail |
0.001 | Disorder characterized by eosinophilia | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... | BeFree | 26017288 | Detail |
<0.001 | adult acute lymphocytic leukemia | We demonstrate for the first time that by using a sufficiently sensitive KIT D81... | BeFree | 24443360 | Detail |
0.301 | Leukemia, Myelocytic, Acute | Chemotherapy and dasatinib induce long-term hematologic and molecular remission ... | BeFree | 18986703 | Detail |
0.281 | Mastocytosis, Systemic | Using highly sensitive assays, KIT D816V can be detected in peripheral blood leu... | BeFree | 25650093 | Detail |
0.126 | Leukemia, Mast-Cell | To explore mechanisms contributing to the clinical heterogeneity of systemic mas... | BeFree | 23958953 | Detail |
0.002 | indolent systemic mastocytosis | Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are c... | BeFree | 22469616 | Detail |
0.003 | Mastocytosis, Systemic | Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC... | BeFree | 22051531 | Detail |
0.002 | mastocytosis | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... | BeFree | 23807778 | Detail |
<0.001 | mastocytosis | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... | BeFree | 25912132 | Detail |
0.002 | indolent systemic mastocytosis | The impact of sensitive KIT D816V detection on recognition of indolent Systemic ... | BeFree | 25582384 | Detail |
0.126 | Leukemia, Mast-Cell | Confirming previous studies, dasatinib was found to inhibit the TK activity of w... | BeFree | 18024392 | Detail |
0.281 | Mastocytosis, Systemic | To explore mechanisms contributing to the clinical heterogeneity of systemic mas... | BeFree | 23958953 | Detail |
0.281 | Mastocytosis, Systemic | The KIT D816V expressed allele burden for diagnosis and disease monitoring of sy... | BeFree | 24281161 | Detail |
0.126 | Leukemia, Mast-Cell | In most patients with systemic mastocytosis (SM), including aggressive SM and ma... | BeFree | 16189265 | Detail |
0.281 | Mastocytosis, Systemic | A case of systemic mastocytosis carrying the characteristic mutation at codon 81... | BeFree | 18663058 | Detail |
0.281 | Mastocytosis, Systemic | KIT D816V mutation-positive cell fractions in lesional skin biopsies from adults... | BeFree | 23774045 | Detail |
0.281 | Mastocytosis, Systemic | The majority of patients with systemic mastocytosis exhibit a D816V mutation in ... | BeFree | 23152053 | Detail |
0.281 | Mastocytosis, Systemic | Chemotherapy and dasatinib induce long-term hematologic and molecular remission ... | BeFree | 18986703 | Detail |
0.001 | Disorder characterized by eosinophilia | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... | BeFree | 26017288 | Detail |
0.001 | Mastocytosis, Systemic | Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis:... | BeFree | 19893034 | Detail |
0.118 | mastocytosis | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... | BeFree | 23807778 | Detail |
0.001 | Mastocytosis, Systemic | Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis:... | BeFree | 19893034 | Detail |
0.019 | leukemia | Two subclones of the HMC1 mast leukaemia cell line were used; both express an id... | BeFree | 19804454 | Detail |
<0.001 | Mastocytosis, Systemic | Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. | BeFree | 25034364 | Detail |
0.281 | Mastocytosis, Systemic | Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. | BeFree | 25034364 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In a phase II clinical trial, 60% of patients (N=89) with advanced systemic mastocytosis responded t... | CIViC Evidence | Detail |
The D816V+ advanced systemic mastocytosis patients with additional mutations in SRSF2 (N=30), ASLX1 ... | CIViC Evidence | Detail |
In an in vitro study of imatinib sensitivity, KIT D816V was cloned into a plasmid by site-directed m... | CIViC Evidence | Detail |
In acute myloid leukemia patients, D816 mutation is associated with earlier relapse and poorer progn... | CIViC Evidence | Detail |
In an in vitro study, COS-7 cells expressing KIT D816V activating mutation demonstrated resistance t... | CIViC Evidence | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Mast cell leukemia | ClinVar | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Gastrointestinal stromal tumor | ClinVar | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Hematologic neoplasm | ClinVar | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Acute myeloid leukemia | ClinVar | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Dysgerminoma | ClinVar | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND MAST CELL LEUKEMIA, SOMATIC | ClinVar | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMA... | ClinVar | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND MASTOCYTOSIS, SYSTEMIC, SOMATIC | ClinVar | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Cutaneous mastocytosis | ClinVar | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND not provided | ClinVar | Detail |
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nude mice and signific... | DisGeNET | Detail |
Together, the biologic effects of KIT D816V in BaF3 cells match strikingly with the clinical course ... | DisGeNET | Detail |
The broad and overlapping clinical manifestations of D816V KIT-associated systemic mastocytosis with... | DisGeNET | Detail |
The presence of the KIT D816V mutation in the CBF AML subgroup can therefore not be considered indic... | DisGeNET | Detail |
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... | DisGeNET | Detail |
Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are highly sensitive to i... | DisGeNET | Detail |
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... | DisGeNET | Detail |
Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leukemia with the D816V... | DisGeNET | Detail |
KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potent... | DisGeNET | Detail |
An immature immunophenotype of bone marrow mast cells predicts for multilineage D816V KIT mutation i... | DisGeNET | Detail |
The KIT D816V mutation is frequently found in systemic mastocytosis, but it has not been documented ... | DisGeNET | Detail |
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... | DisGeNET | Detail |
Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) im... | DisGeNET | Detail |
Our findings warrant a clinical trial of ponatinib in patients with systemic mastocytosis harboring ... | DisGeNET | Detail |
A KIT mutation was identified in six cases (67%), including three with the D816V mutation typical of... | DisGeNET | Detail |
Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test for D816V detection... | DisGeNET | Detail |
Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate c... | DisGeNET | Detail |
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... | DisGeNET | Detail |
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... | DisGeNET | Detail |
We recently introduced the D816V+ allele fraction as a disease marker in SM using a sensitive and qu... | DisGeNET | Detail |
Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distrib... | DisGeNET | Detail |
The KIT mutation D816V was detected in sorted CD34(+) cells and unfractionated marrow cells but not ... | DisGeNET | Detail |
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mast... | DisGeNET | Detail |
If positive in BM, the KIT D816V mutation was found in PB of all patients with advanced SM (SM-AHNMD... | DisGeNET | Detail |
High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the tr... | DisGeNET | Detail |
In most patients with systemic mastocytosis (SM), including aggressive SM and mast cell leukemia (MC... | DisGeNET | Detail |
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... | DisGeNET | Detail |
Systemic mastocytosis involving the gastrointestinal tract is associated with the usual D816V KIT mu... | DisGeNET | Detail |
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... | DisGeNET | Detail |
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... | DisGeNET | Detail |
Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate c... | DisGeNET | Detail |
The Asp816Val mutation in the catalytic domain of the c-kit receptor has been identified in patients... | DisGeNET | Detail |
The C-KIT mutation Asp-816-Val confirmed the diagnosis of SM. | DisGeNET | Detail |
To conclude, the KIT D816V burden correlates with the variant of mastocytosis, predicts survival, an... | DisGeNET | Detail |
KIT-D816V-independent oncogenic signaling in neoplastic cells in systemic mastocytosis: role of Lyn ... | DisGeNET | Detail |
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... | DisGeNET | Detail |
Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-... | DisGeNET | Detail |
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions... | DisGeNET | Detail |
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions... | DisGeNET | Detail |
The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the ... | DisGeNET | Detail |
Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-... | DisGeNET | Detail |
Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. | DisGeNET | Detail |
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... | DisGeNET | Detail |
GEP analyses were performed by using DNA-oligonucleotide microarrays in highly purified BMMCs from p... | DisGeNET | Detail |
Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations i... | DisGeNET | Detail |
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions... | DisGeNET | Detail |
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutation... | DisGeNET | Detail |
Although the KIT D816V mutation is typically found in adult-onset mastocytosis, it is less commonly ... | DisGeNET | Detail |
Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) im... | DisGeNET | Detail |
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... | DisGeNET | Detail |
Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation. | DisGeNET | Detail |
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... | DisGeNET | Detail |
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions... | DisGeNET | Detail |
ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should... | DisGeNET | Detail |
These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD117(+) cells, offerin... | DisGeNET | Detail |
If positive in BM, the KIT D816V mutation was found in PB of all patients with advanced SM (SM-AHNMD... | DisGeNET | Detail |
We tested this hypothesis on a BaF/3 cell line modified to express either KIT wild-type (WT) or KIT ... | DisGeNET | Detail |
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... | DisGeNET | Detail |
Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding factor acute myeloid l... | DisGeNET | Detail |
Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK... | DisGeNET | Detail |
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... | DisGeNET | Detail |
Six other patients reported symptomatic improvement, including two with D816V KIT mutation-positive ... | DisGeNET | Detail |
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... | DisGeNET | Detail |
We tested this hypothesis on a BaF/3 cell line modified to express either KIT wild-type (WT) or KIT ... | DisGeNET | Detail |
Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding factor acute myeloid l... | DisGeNET | Detail |
The reason for this decreased sensitivity to TKIs is related to the resistance of the D816V variant ... | DisGeNET | Detail |
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... | DisGeNET | Detail |
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... | DisGeNET | Detail |
Although the KIT D816V mutation is typically found in adult-onset mastocytosis, it is less commonly ... | DisGeNET | Detail |
Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. | DisGeNET | Detail |
KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance... | DisGeNET | Detail |
Cooperating genetic events are likely to contribute to the phenotypic diversity of KIT-D816V systemi... | DisGeNET | Detail |
In a majority of all patients with systemic mastocytosis (SM) including those with mast cell leukemi... | DisGeNET | Detail |
For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific t... | DisGeNET | Detail |
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... | DisGeNET | Detail |
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... | DisGeNET | Detail |
For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific t... | DisGeNET | Detail |
KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance... | DisGeNET | Detail |
ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should... | DisGeNET | Detail |
Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations i... | DisGeNET | Detail |
ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should... | DisGeNET | Detail |
To gain better insight into clinical characteristics, we compared these cases with 31 additional and... | DisGeNET | Detail |
Investigation for presence of the activating KIT point mutation D816V is very helpful to establish a... | DisGeNET | Detail |
We therefore investigated 426 samples from patients with hypereosinophilia of unknown significance i... | DisGeNET | Detail |
To gain better insight into clinical characteristics, we compared these cases with 31 additional and... | DisGeNET | Detail |
Our data show that KIT D816V is a disease-propagating oncoprotein, but it does not activate MCs to r... | DisGeNET | Detail |
Whereas in pediatric mastocytosis, which is usually confined to the skin, a number of different KIT ... | DisGeNET | Detail |
In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) and mast cell (MC) l... | DisGeNET | Detail |
Additionally, dasatinib induced apoptosis in mast cell and leukemia cell lines expressing KIT(D816V)... | DisGeNET | Detail |
Moreover, MCL-1 was detectable in both subclones of the MC line HMC-1--HMC-1.1 cells, which lack the... | DisGeNET | Detail |
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... | DisGeNET | Detail |
Sensitive detection of KIT D816V in patients with mastocytosis. | DisGeNET | Detail |
High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the tr... | DisGeNET | Detail |
Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remodeling in KIT D816V-... | DisGeNET | Detail |
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... | DisGeNET | Detail |
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... | DisGeNET | Detail |
Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-... | DisGeNET | Detail |
The reason for this decreased sensitivity to TKIs is related to the resistance of the D816V variant ... | DisGeNET | Detail |
These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD117(+) cells, offerin... | DisGeNET | Detail |
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... | DisGeNET | Detail |
Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remodeling in KIT D816V-... | DisGeNET | Detail |
The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the ... | DisGeNET | Detail |
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... | DisGeNET | Detail |
We found that the D816V-mutated variant of KIT, a TK detectable in most patients with systemic masto... | DisGeNET | Detail |
Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation. | DisGeNET | Detail |
Whereas in pediatric mastocytosis, which is usually confined to the skin, a number of different KIT ... | DisGeNET | Detail |
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutation... | DisGeNET | Detail |
Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate c... | DisGeNET | Detail |
Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. | DisGeNET | Detail |
We tested this hypothesis on a BaF/3 cell line modified to express either KIT wild-type (WT) or KIT ... | DisGeNET | Detail |
Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis iden... | DisGeNET | Detail |
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions... | DisGeNET | Detail |
Ponatinib was found to inhibit the kinase activity of KIT G560V and KIT D816V in the human mast cell... | DisGeNET | Detail |
We found that the D816V-mutated variant of KIT, a TK detectable in most patients with systemic masto... | DisGeNET | Detail |
High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the tr... | DisGeNET | Detail |
Sensitive detection of KIT D816V in patients with mastocytosis. | DisGeNET | Detail |
The presence of the KIT D816V mutation in the CBF AML subgroup can therefore not be considered indic... | DisGeNET | Detail |
Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastoc... | DisGeNET | Detail |
KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocy... | DisGeNET | Detail |
D816V KIT mutation, found in ∼80% of SM, is resistant to the currently available tyrosine kinase inh... | DisGeNET | Detail |
These findings demonstrate that the ACB-PCR assay combined with ESMA is a rapid and highly sensitive... | DisGeNET | Detail |
KIT D816V mutation has been observed in more than 90% of patients with systemic mastocytosis (SM). | DisGeNET | Detail |
In summary, our data show that KIT D816V in AML is highly associated with co-existing SM (SM-AML). | DisGeNET | Detail |
Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations i... | DisGeNET | Detail |
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... | DisGeNET | Detail |
Improved detection of the KIT D816V mutation in patients with systemic mastocytosis using a quantita... | DisGeNET | Detail |
Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. | DisGeNET | Detail |
Based on all these results, it is hypothesized that KIT D816V as a single hit may be sufficient to c... | DisGeNET | Detail |
INNO-406 was found to inhibit proliferation in HMC-1.1 cells (IC(50): 30-40 nM), but not in HMC-1.2 ... | DisGeNET | Detail |
The high frequency of KIT(D816V) in neoplastic mast cells and leukaemic myelomonocytic cells in SM-C... | DisGeNET | Detail |
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... | DisGeNET | Detail |
We demonstrate for the first time that by using a sufficiently sensitive KIT D816V mutation analysis... | DisGeNET | Detail |
Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocyt... | DisGeNET | Detail |
Using highly sensitive assays, KIT D816V can be detected in peripheral blood leukocytes from most pa... | DisGeNET | Detail |
To explore mechanisms contributing to the clinical heterogeneity of systemic mastocytosis (SM) and t... | DisGeNET | Detail |
Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of ind... | DisGeNET | Detail |
Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) im... | DisGeNET | Detail |
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... | DisGeNET | Detail |
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... | DisGeNET | Detail |
The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis. | DisGeNET | Detail |
Confirming previous studies, dasatinib was found to inhibit the TK activity of wild type (wt) KIT an... | DisGeNET | Detail |
To explore mechanisms contributing to the clinical heterogeneity of systemic mastocytosis (SM) and t... | DisGeNET | Detail |
The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. | DisGeNET | Detail |
In most patients with systemic mastocytosis (SM), including aggressive SM and mast cell leukemia (MC... | DisGeNET | Detail |
A case of systemic mastocytosis carrying the characteristic mutation at codon 816 (D816V) in the KIT... | DisGeNET | Detail |
KIT D816V mutation-positive cell fractions in lesional skin biopsies from adults with systemic masto... | DisGeNET | Detail |
The majority of patients with systemic mastocytosis exhibit a D816V mutation in the activating loop ... | DisGeNET | Detail |
Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocyt... | DisGeNET | Detail |
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... | DisGeNET | Detail |
Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distrib... | DisGeNET | Detail |
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... | DisGeNET | Detail |
Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distrib... | DisGeNET | Detail |
Two subclones of the HMC1 mast leukaemia cell line were used; both express an identical KIT allele-s... | DisGeNET | Detail |
Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. | DisGeNET | Detail |
Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121913507 dbSNP
- Genome
- hg38
- Position
- chr4:54,733,155-54,733,155
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- D816V
- Transcript 1 (CIViC Variant)
- ENST00000288135.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/65
- Summary (CIViC Variant)
- KIT D816V is a mutation observed in acute myeloid leukemia (AML). This variant has been linked to poorer prognosis and worse outcome in AML patients.
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