chr12:25245347:C>A Detail (hg38) (KRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:25,398,281-25,398,281 View the variant detail on this assembly version. |
| hg38 | chr12:25,245,347-25,245,347 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004985.4:c.38G>T | NP_004976.2:p.Gly13Val |
| NM_033360.3:c.38G>T | NP_203524.1:p.Gly13Val | |
| Ensemble | ENST00000256078.10:c.38G>T | ENST00000256078.10:p.Gly13Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2011-10-13 | criteria provided, single submitter | Non-small cell lung carcinoma |
somatic
|
Detail |
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Thyroid tumor |
somatic
|
Detail |
|
Pathogenic
|
2015-07-14 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Pathogenic
|
no assertion criteria provided | not provided |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | thymoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| <0.001 | thymic carcinoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| <0.001 | thymoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| <0.001 | Thymoma, type C | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| 0.082 | colorectal carcinoma | Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... | BeFree | 25367198 | Detail |
| 0.120 | breast adenocarcinoma | NA | CLINVAR | Detail | |
| 0.149 | Carcinogenesis | This system allowed us to rapidly compare the ability of 12 different KRAS mutat... | BeFree | 25065594 | Detail |
| 0.080 | Colorectal cancer metastatic | KRAS p.G13D mutation and codon 12 mutations are not created equal in predicting ... | BeFree | 22972628 | Detail |
| 0.080 | Colorectal cancer metastatic | Cetuximab-based or bevacizumab-based first-line treatment in patients with KRAS ... | BeFree | 22441566 | Detail |
| 0.108 | colorectal cancer | KRAS MASI is a significant event in colorectal cancer, specifically associated w... | BeFree | 25609577 | Detail |
| 0.025 | Malignant tumor of colon | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.080 | Colorectal cancer metastatic | Influence of KRAS p.G13D mutation in patients with metastatic colorectal cancer ... | BeFree | 22537608 | Detail |
| 0.003 | Malignant tumor of colon | The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... | BeFree | 16448675 | Detail |
| 0.274 | colorectal cancer | Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... | BeFree | 25367198 | Detail |
| 0.082 | colorectal carcinoma | KRAS MASI is a significant event in colorectal cancer, specifically associated w... | BeFree | 25609577 | Detail |
| 0.007 | colorectal cancer | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| 0.082 | colorectal carcinoma | We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral on... | BeFree | 25359494 | Detail |
| 0.160 | colorectal cancer | In this analysis, use of cetuximab was associated with longer overall and progre... | BeFree | 20978259 | Detail |
| <0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| 0.007 | colorectal cancer | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| 0.001 | colon carcinoma | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.010 | colorectal carcinoma | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| 0.010 | colorectal carcinoma | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| 0.080 | colorectal carcinoma | KRAS MASI is a significant event in colorectal cancer, specifically associated w... | BeFree | 25609577 | Detail |
| 0.160 | colorectal cancer | We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral on... | BeFree | 25359494 | Detail |
| <0.001 | Malignant tumor of colon | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.080 | Colorectal cancer metastatic | Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-r... | BeFree | 20978259 | Detail |
| 0.160 | colorectal cancer | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... | BeFree | 23015072 | Detail |
| 0.080 | Colorectal cancer metastatic | Association of KRAS G13D tumor mutations with outcome in patients with metastati... | BeFree | 22734028 | Detail |
| 0.240 | RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER | NA | CLINVAR | Detail | |
| <0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| <0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| <0.001 | Malignant tumor of colon | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.024 | colon carcinoma | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.010 | colorectal carcinoma | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| <0.001 | colon carcinoma | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.082 | colorectal carcinoma | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... | BeFree | 23015072 | Detail |
| 0.080 | colorectal carcinoma | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... | BeFree | 23015072 | Detail |
| 0.082 | colorectal carcinoma | In this analysis, use of cetuximab was associated with longer overall and progre... | BeFree | 20978259 | Detail |
| 0.007 | colorectal cancer | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| 0.080 | Colorectal cancer metastatic | Association KRAS G13D tumor mutated outcome in patients with chemotherapy refrac... | BeFree | 23537520 | Detail |
| 0.163 | Neoplasm Metastasis | Thus, a mutation frequency of 40% and a cluster of three mutation types (p.G12D,... | BeFree | 19679400 | Detail |
| <0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| 0.003 | Malignant tumor of colon | The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... | BeFree | 16448675 | Detail |
| 0.160 | colorectal cancer | Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... | BeFree | 25367198 | Detail |
| 0.108 | colorectal cancer | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... | BeFree | 23015072 | Detail |
| 0.160 | colorectal cancer | KRAS MASI is a significant event in colorectal cancer, specifically associated w... | BeFree | 25609577 | Detail |
| 0.321 | Non-small cell lung carcinoma | NA | CLINVAR | Detail | |
| 0.448 | juvenile myelomonocytic leukemia | NA | CLINVAR | Detail | |
| <0.001 | mycosis fungoides | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| 0.006 | Malignant tumor of colon | The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... | BeFree | 16448675 | Detail |
| 0.074 | colorectal carcinoma | Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... | BeFree | 25367198 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004985.5(KRAS):c.38G>T (p.Gly13Val) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>T (p.Gly13Val) AND Thyroid tumor | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>T (p.Gly13Val) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>T (p.Gly13Val) AND not provided | ClinVar | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1... | DisGeNET | Detail |
| KRAS p.G13D mutation and codon 12 mutations are not created equal in predicting clinical outcomes of... | DisGeNET | Detail |
| Cetuximab-based or bevacizumab-based first-line treatment in patients with KRAS p.G13D-mutated metas... | DisGeNET | Detail |
| KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| Influence of KRAS p.G13D mutation in patients with metastatic colorectal cancer treated with cetuxim... | DisGeNET | Detail |
| The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... | DisGeNET | Detail |
| Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... | DisGeNET | Detail |
| KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with ... | DisGeNET | Detail |
| In this analysis, use of cetuximab was associated with longer overall and progression-free survival ... | DisGeNET | Detail |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... | DisGeNET | Detail |
| We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with ... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic... | DisGeNET | Detail |
| KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... | DisGeNET | Detail |
| Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... | DisGeNET | Detail |
| KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... | DisGeNET | Detail |
| In this analysis, use of cetuximab was associated with longer overall and progression-free survival ... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| Association KRAS G13D tumor mutated outcome in patients with chemotherapy refractory metastatic colo... | DisGeNET | Detail |
| Thus, a mutation frequency of 40% and a cluster of three mutation types (p.G12D, pG12V, and p.G13D) ... | DisGeNET | Detail |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... | DisGeNET | Detail |
| Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... | DisGeNET | Detail |
| KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... | DisGeNET | Detail |
| KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... | DisGeNET | Detail |
| Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... | 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
- rs112445441 dbSNP
- Genome
- hg38
- Position
- chr12:25,245,347-25,245,347
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser