| Variant ID | 31453 |
|---|---|
| Entrez Gene ID | 3845 |
| Gene | KRAS (GeneCards) |
| Location | hg19 12:25368408-25368408
hg38 12:25215474-25215474 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000012.11:g.25368408 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 179 |
| Amino acid changes in protein | G > G |
| Position in cDNA | 537 |
| Changes in cDNA | C > T |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.5702 |
| CADD Raw score (version 1.3) | 0.850957 (Deleterious) |
| FATHMM raw prediction score | 0.97909 (Tolerated) |
| Deleterious probability by DeFine | 0.885 (Deleterious) |
| Entrez Gene ID | 3845 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRAS (GeneCards) |
| Number of variants in KRAS in this database | 20 (view all the variants) |
| Full name | KRAS proto-oncogene, GTPase |
| Band | 12p12.1 |
| Other IDs | Vega: OTTHUMG00000171193 OMIM: 190070 HGNC: HGNC:6407 Ensembl: ENSG00000133703 |
| Other names | NS, NS3, CFC2, RALD, K-Ras, KRAS1, KRAS2, RASK2, KI-RAS, C-K-RAS, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, c-Ki-ras2 |
| Summary | This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008] |
| Individual ID | 25999502.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |