Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | NRAS |
Variant | G12V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | NRAS G12V is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12V confers a loss of function on Nras protein as indicated by accumulation of GTP-bound Nras, loss of GTPase-activating protein sensitivity, leading to increased downstream pathway activation in cell culture (PMID: 19966803). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12V NRAS mutant NRAS exon2 NRAS G12X NRAS G12V |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716126C>A |
cDNA | c.35G>T |
Protein | p.G12V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524 | chr1:g.114716126C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
NM_002524.4 | chr1:g.114716126C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
NM_002524.5 | chr1:g.114716126C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
NRAS G12V | colorectal cancer | sensitive | Cetuximab + Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Erbitux (cetuximab) and Mekinist (trametinib) decreased viability of colorectal cancer cells harboring NRAS G12V in culture (PMID: 28179366). | 28179366 |
NRAS G12V | colorectal cancer | resistant | Cetuximab | Preclinical - Cell culture | Actionable | In a preclinical study, colorectal cancer cells harboring NRAS G12V demonstrated resistance to Erbitux (cetuximab) in culture (PMID: 28179366). | 28179366 |