chr2:197389784:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:198,254,508-198,299,803 
hg38 chr2:197,389,784-197,435,079

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 Congenital chromosomal disease A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnor... BeFree 25130056 Detail
0.008 Congenital chromosomal disease The expression of unmutated immunoglobulin heavy chain variable region (IGHV) ge... BeFree 25563586 Detail
0.008 Congenital chromosomal disease Karyotype analysis was performed in 179 patients with AML or MDS with the differ... BeFree 26214902 Detail
<0.001 colorectal carcinoma NA BeFree Detail
<0.001 Presenile dementia NA BeFree Detail
<0.001 dystonia NA BeFree Detail
<0.001 Eosinophilia NA BeFree Detail
<0.001 Focal glomerulosclerosis NA BeFree Detail
<0.001 Graft-vs-Host Disease NA BeFree Detail
<0.001 Heart Diseases HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease. BeFree 26083752 Detail
0.001 Hematological Disease NA BeFree Detail
<0.001 HIV Infections NA BeFree Detail
<0.001 Immune System Diseases NA BeFree Detail
0.005 leukemia RUNX1 translocations and amplifications have been implicated in acute myeloblast... BeFree 24912843 Detail
0.127 chronic lymphocytic leukemia Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (... BeFree,CTD_human 24943832 Detail
0.127 chronic lymphocytic leukemia We examined the significance of IgM peaks in chronic lymphocytic leukemia (CLL),... BeFree,CTD_human 24943833 Detail
0.127 chronic lymphocytic leukemia From pioneering studies, we know that certain genetic events are found in the ma... BeFree,CTD_human 25345442 Detail
0.127 chronic lymphocytic leukemia The impact of SF3B1 mutations in CLL on the DNA-damage response. BeFree,CTD_human 25371178 Detail
0.127 chronic lymphocytic leukemia Although TP53, NOTCH1, and SF3B1 mutations may impair prognosis of patients with... BeFree,CTD_human 26316624 Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
0.040 Leukemia, Myelocytic, Acute A recent report in Nature now demonstrates that a specific mutation in mouse col... BeFree 24589711 Detail
0.040 Leukemia, Myelocytic, Acute In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... BeFree 24845343 Detail
0.040 Leukemia, Myelocytic, Acute Although the frequency of evolution from hypocellular MDS to AML is low, our res... BeFree 25180186 Detail
0.040 Leukemia, Myelocytic, Acute Results confirm high frequencies of RAS and other activated signaling mutations ... BeFree 25331116 Detail
0.040 Leukemia, Myelocytic, Acute TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%),... BeFree 25573287 Detail
0.040 Leukemia, Myelocytic, Acute What came first: MDS or AML? BeFree 25721039 Detail
0.040 Leukemia, Myelocytic, Acute This TP53 mutation pattern was strikingly similar to that observed in de novo MD... BeFree 25952993 Detail
0.040 Leukemia, Myelocytic, Acute Karyotype analysis was performed in 179 patients with AML or MDS with the differ... BeFree 26214902 Detail
0.001 myeloid leukemia NA BeFree Detail
0.002 Myeloid Leukemia, Chronic NA BeFree Detail
0.008 Leukemia, Myelomonocytic, Chronic The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... BeFree 24845343 Detail
0.001 acute promyelocytic leukemia NA BeFree Detail
0.001 leukopenia NA BeFree Detail
<0.001 lymphedema Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... BeFree 26214525 Detail
<0.001 Lymphocytosis By multivariate analysis, IgM peaks were associated with shorter treatment-free ... BeFree 24943833 Detail
0.002 lymphoma NA BeFree Detail
0.001 melanoma Rare SF3B1 R625 mutations in cutaneous melanoma. BeFree 24709888 Detail
0.004 Monosomy NA BeFree Detail
<0.001 Movement Disorders The Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDR... BeFree 25487881 Detail
0.001 multiple myeloma NA BeFree Detail
0.003 Myelodysplasia NA BeFree Detail
<0.001 myelofibrosis NA BeFree Detail
0.002 Myeloproliferative disease In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... BeFree 24845343 Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
<0.001 polycythemia vera The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... BeFree 24845343 Detail
0.013 Preleukemia Disruption of SF3B1 results in deregulated expression and splicing of key genes ... BeFree 25428262 Detail
0.013 Preleukemia Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of ... BeFree 25481243 Detail
0.013 Preleukemia Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... BeFree 25619630 Detail
0.013 Preleukemia By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely asso... BeFree 25732814 Detail
0.013 Preleukemia SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with rin... BeFree 25957392 Detail
0.013 Preleukemia Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... BeFree 26214525 Detail
<0.001 Thrombocythemia, Essential The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... BeFree 24845343 Detail
<0.001 Trisomy NA BeFree Detail
<0.001 Liver failure NA BeFree Detail
0.003 acute leukemia NA BeFree Detail
<0.001 Monocytosis NA BeFree Detail
<0.001 Cutaneous Melanoma Rare SF3B1 R625 mutations in cutaneous melanoma. BeFree 24709888 Detail
<0.001 hepatoblastoma NA BeFree Detail
<0.001 Adult Acute Myeloblastic Leukemia NA BeFree Detail
0.122 uveal melanoma SF3B1 missense mutations were found in the two UMs with no BAP1 mutations. BeFree,CTD_human 25361747 Detail
0.122 uveal melanoma Using transcriptome sequencing data from chronic lymphocytic leukemia, breast ca... BeFree,CTD_human 25768983 Detail
<0.001 secondary myelofibrosis Among them, five patients (two PV, two MPN-U, and one MDS/MPN-U) progressed to M... BeFree 24845343 Detail
0.001 Miller Dieker syndrome NA BeFree Detail
<0.001 Renal glomerular disease NA BeFree Detail
<0.001 Acquired aplastic anemia NA BeFree Detail
<0.001 Chronic lymphocytic leukaemia refractory NA BeFree Detail
<0.001 Cancer of Head and Neck Regulation of HPV16 E6 and MCL1 by SF3B1 inhibitor in head and neck cancer cells... BeFree 25139387 Detail
<0.001 Philadelphia chromosome positive chronic myelogenous leukemia Few patients in remission of Ph-positive chronic myelogenous leukemia (CML) deve... BeFree 25631405 Detail
<0.001 Refractory anemia with excess blasts in transformation (clinical) NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
0.001 secondary acute myeloid leukemia NA BeFree Detail
<0.001 de novo myelodysplastic syndromes NA BeFree Detail
<0.001 Iron Overload Our studies suggest that SF3B1 mutations contribute to cellular iron overload in... BeFree 24854990 Detail
<0.001 anaplastic astrocytoma NA BeFree Detail
<0.001 Richter's syndrome NA BeFree Detail
0.001 juvenile myelomonocytic leukemia NA BeFree Detail
<0.001 prediabetes syndrome NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Hematopoietic Neoplasms NA BeFree Detail
0.002 Hematologic Neoplasms Gene encoding splicing factors, especially splicing factor 3b subunit 1 (SF3B1),... BeFree 25651737 Detail
<0.001 Dystonia Disorders NA BeFree Detail
0.002 Chromosome 8, trisomy The aim of our study was 1) to define if the amplification of c-MYC, MLL and RUN... BeFree 26214902 Detail
<0.001 dementia NA BeFree Detail
<0.001 Severe depression NA BeFree Detail
<0.001 Carcinogenesis Significantly, we discovered that SF3B1 was involved in the splicing of oncogeni... BeFree 25139387 Detail
0.002 Leukemogenesis NA BeFree Detail
0.003 Refractory anemias Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
<0.001 Progressive Neoplastic Disease Acquired defects in the p53 pathway, activating mutations of NOTCH1, and dysfunc... BeFree 25696844 Detail
0.001 thrombocytosis Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.040 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
0.002 breast carcinoma SF3B1 mutations constitute a novel therapeutic target in breast cancer. BeFree 25424858 Detail
0.002 breast carcinoma The efficacy of the software is verified through MDS and clustering and tested w... BeFree 25905921 Detail
0.003 Refractory anemia, without ringed sideroblasts, without excess blasts Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.002 Myeloid Leukemia, Chronic Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... BeFree 23846442 Detail
0.001 thrombocytosis The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... BeFree 21350094 Detail
0.001 5q-syndrome NA BeFree Detail
<0.001 Chromosome 12, 12p trisomy NOTCH1 mutations correlated with a shorter treatment-free interval (p = 0.058), ... BeFree 24597984 Detail
0.001 thrombocytosis Sf3b1 (+/-) exhibited macrocytic anemia (MCV: 49.5 ± 1.6 vs 47.2 ± 1.4; Hgb: 5.5... BeFree 25481243 Detail
<0.001 Leukemia secondary NA BeFree Detail
<0.001 myocardial hypoxia Here we show that myocardial hypoxia actuates fructose metabolism in human and m... BeFree 26083752 Detail
<0.001 Refractory anemia with ringed sideroblasts NA BeFree Detail
0.001 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... BeFree 24845343 Detail
0.001 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative According to the 2008 WHO classification, the category of myelodysplastic/myelop... BeFree 25212680 Detail
0.002 Chronic myeloproliferative disorder In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... BeFree 24845343 Detail
0.001 Myelodysplastic Syndrome with Isolated del(5q) NA BeFree Detail
0.001 Therapy-related myelodysplastic syndrome TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%),... BeFree 25573287 Detail
0.004 Myelodysplastic-Myeloproliferative Diseases Myeloproliferative neoplasms (MPN) and myelodysplastic/myeloproliferative neopla... BeFree 24845343 Detail
0.004 Myelodysplastic-Myeloproliferative Diseases According to the 2008 WHO classification, the category of myelodysplastic/myelop... BeFree 25212680 Detail
<0.001 Eosinophilic disorder NA BeFree Detail
<0.001 Refractory anemia with excess blasts I NA BeFree Detail
<0.001 Refractory anemia with excess blasts II NA BeFree Detail
<0.001 Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome NA BeFree Detail
0.001 Treatment related acute myeloid leukaemia NA BeFree Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Disorder characterized by eosinophilia NA BeFree Detail
<0.001 Milroy Disease Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... BeFree 25619630 Detail
0.001 Chromosome 5, trisomy 5q NA BeFree Detail
<0.001 campomelic dysplasia NA BeFree Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
<0.001 Refractory anemia with ring sideroblasts associated with marked thrombocytosis NA BeFree Detail
<0.001 myeloid neoplasm Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... BeFree 25619630 Detail
0.003 Refractory anemia, without ringed sideroblasts, without excess blasts The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplast... BeFree 25428262 Detail
<0.001 Emberger syndrome Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... BeFree 25619630 Detail
0.011 myelodysplastic syndrome Disruption of SF3B1 results in deregulated expression and splicing of key genes ... BeFree 25428262 Detail
0.011 myelodysplastic syndrome Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of ... BeFree 25481243 Detail
0.011 myelodysplastic syndrome Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... BeFree 25619630 Detail
0.011 myelodysplastic syndrome By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely asso... BeFree 25732814 Detail
0.011 myelodysplastic syndrome SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with rin... BeFree 25957392 Detail
0.011 myelodysplastic syndrome Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... BeFree 26214525 Detail
<0.001 Progressive cGVHD Acquired defects in the p53 pathway, activating mutations of NOTCH1, and dysfunc... BeFree 25696844 Detail
<0.001 RETINOSCHISIS 1, X-LINKED, JUVENILE NA BeFree Detail
0.001 Primary myelofibrosis NA BeFree Detail
0.002 anemia NA BeFree Detail
0.001 aplastic anemia NA BeFree Detail
<0.001 Anemia, Macrocytic Sf3b1 (+/-) exhibited macrocytic anemia (MCV: 49.5 ± 1.6 vs 47.2 ± 1.4; Hgb: 5.5... BeFree 25481243 Detail
0.003 Refractory anemias The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplast... BeFree 25428262 Detail
0.004 Refractory anaemia with excess blasts NA BeFree Detail
<0.001 Blast Phase NA BeFree Detail
0.002 Malignant neoplasm of breast SF3B1 mutations constitute a novel therapeutic target in breast cancer. BeFree 25424858 Detail
0.002 Malignant neoplasm of breast The efficacy of the software is verified through MDS and clustering and tested w... BeFree 25905921 Detail
<0.001 mucinous adenocarcinoma Additional profiling of hotspot mutations in a panel of special histological sub... BeFree 25424858 Detail
Annotation

Annotations

DescrptionSourceLinks
A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnormality 45,XY,der(5;1... DisGeNET Detail
The expression of unmutated immunoglobulin heavy chain variable region (IGHV) genes, ZAP-70 and CD38... DisGeNET Detail
Karyotype analysis was performed in 179 patients with AML or MDS with the different chromosomal aber... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
RUNX1 translocations and amplifications have been implicated in acute myeloblastic leukemia, acute l... DisGeNET Detail
Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (ERIC), we screened 3... DisGeNET Detail
We examined the significance of IgM peaks in chronic lymphocytic leukemia (CLL), including its assoc... DisGeNET Detail
From pioneering studies, we know that certain genetic events are found in the majority of chronic ly... DisGeNET Detail
The impact of SF3B1 mutations in CLL on the DNA-damage response. DisGeNET Detail
Although TP53, NOTCH1, and SF3B1 mutations may impair prognosis of patients with chronic lymphocytic... DisGeNET Detail
NA DisGeNET Detail
A recent report in Nature now demonstrates that a specific mutation in mouse collagen-expressing ost... DisGeNET Detail
In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to... DisGeNET Detail
Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that so... DisGeNET Detail
Results confirm high frequencies of RAS and other activated signaling mutations (10/12 AMLs) and ide... DisGeNET Detail
TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%), significantly highe... DisGeNET Detail
What came first: MDS or AML? DisGeNET Detail
This TP53 mutation pattern was strikingly similar to that observed in de novo MDS/AML. DisGeNET Detail
Karyotype analysis was performed in 179 patients with AML or MDS with the different chromosomal aber... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... DisGeNET Detail
By multivariate analysis, IgM peaks were associated with shorter treatment-free survival independent... DisGeNET Detail
NA DisGeNET Detail
Rare SF3B1 R625 mutations in cutaneous melanoma. DisGeNET Detail
NA DisGeNET Detail
The Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), the Hoehn and Ya... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to... DisGeNET Detail
NA DisGeNET Detail
The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... DisGeNET Detail
Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myel... DisGeNET Detail
Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodyspla... DisGeNET Detail
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... DisGeNET Detail
By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely associated with the myel... DisGeNET Detail
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. DisGeNET Detail
Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... DisGeNET Detail
The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Rare SF3B1 R625 mutations in cutaneous melanoma. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
SF3B1 missense mutations were found in the two UMs with no BAP1 mutations. DisGeNET Detail
Using transcriptome sequencing data from chronic lymphocytic leukemia, breast cancer and uveal melan... DisGeNET Detail
Among them, five patients (two PV, two MPN-U, and one MDS/MPN-U) progressed to MF and three patients... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Regulation of HPV16 E6 and MCL1 by SF3B1 inhibitor in head and neck cancer cells. DisGeNET Detail
Few patients in remission of Ph-positive chronic myelogenous leukemia (CML) develop Ph-negative MDS/... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our studies suggest that SF3B1 mutations contribute to cellular iron overload in RARS/-T by deregula... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Gene encoding splicing factors, especially splicing factor 3b subunit 1 (SF3B1), have been shown to ... DisGeNET Detail
NA DisGeNET Detail
The aim of our study was 1) to define if the amplification of c-MYC, MLL and RUNX1 genes is related ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Significantly, we discovered that SF3B1 was involved in the splicing of oncogenic HPV16 E6 to produc... DisGeNET Detail
NA DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
Acquired defects in the p53 pathway, activating mutations of NOTCH1, and dysfunctional mutations of ... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
SF3B1 mutations constitute a novel therapeutic target in breast cancer. DisGeNET Detail
The efficacy of the software is verified through MDS and clustering and tested with available 11 fam... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... DisGeNET Detail
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... DisGeNET Detail
NA DisGeNET Detail
NOTCH1 mutations correlated with a shorter treatment-free interval (p = 0.058), an unmutated immunog... DisGeNET Detail
Sf3b1 (+/-) exhibited macrocytic anemia (MCV: 49.5 ± 1.6 vs 47.2 ± 1.4; Hgb: 5.5 ± 1.7 vs 7.2 ± 1.0)... DisGeNET Detail
NA DisGeNET Detail
Here we show that myocardial hypoxia actuates fructose metabolism in human and mouse models of patho... DisGeNET Detail
NA DisGeNET Detail
The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... DisGeNET Detail
According to the 2008 WHO classification, the category of myelodysplastic/myeloproliferative neoplas... DisGeNET Detail
In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to... DisGeNET Detail
NA DisGeNET Detail
TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%), significantly highe... DisGeNET Detail
Myeloproliferative neoplasms (MPN) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN) may tr... DisGeNET Detail
According to the 2008 WHO classification, the category of myelodysplastic/myeloproliferative neoplas... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... DisGeNET Detail
The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplastic syndrome (MDS), p... DisGeNET Detail
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... DisGeNET Detail
Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myel... DisGeNET Detail
Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodyspla... DisGeNET Detail
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... DisGeNET Detail
By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely associated with the myel... DisGeNET Detail
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. DisGeNET Detail
Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... DisGeNET Detail
Acquired defects in the p53 pathway, activating mutations of NOTCH1, and dysfunctional mutations of ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Sf3b1 (+/-) exhibited macrocytic anemia (MCV: 49.5 ± 1.6 vs 47.2 ± 1.4; Hgb: 5.5 ± 1.7 vs 7.2 ± 1.0)... DisGeNET Detail
The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplastic syndrome (MDS), p... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
SF3B1 mutations constitute a novel therapeutic target in breast cancer. DisGeNET Detail
The efficacy of the software is verified through MDS and clustering and tested with available 11 fam... DisGeNET Detail
Additional profiling of hotspot mutations in a panel of special histological subtypes of breast canc... 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
rs386626619 dbSNP
Genome
hg38
Position
chr2:197,389,784-197,435,079
Variant Type
snv
Genome browser