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Gene | NRAS |
Variant | G13V |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | NRAS G13V is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G13V has not been characterized, but can be predicted to confer a loss of function to the Nras protein based on the effects of HRAS G13V, which results in a loss of response to GTPase-activating proteins, leading to increased GTP-bound Hras in culture (PMID: 24224811). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G13V NRAS mutant NRAS exon2 NRAS G13X NRAS G13V |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716123C>A |
cDNA | c.38G>T |
Protein | p.G13V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524 | chr1:g.114716123C>A | c.38G>T | p.G13V | RefSeq | GRCh38/hg38 |
NM_002524.4 | chr1:g.114716123C>A | c.38G>T | p.G13V | RefSeq | GRCh38/hg38 |
NM_002524.5 | chr1:g.114716123C>A | c.38G>T | p.G13V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
NRAS G13V | adult T-cell leukemia/lymphoma | sensitive | 3144 | Preclinical - Pdx & cell culture | Actionable | In a preclinical study, 3144 inhibited growth of patient-derived T-cell acute lymphocytic leukemia cells harboring NRAS G13V in culture, and reduced tumor burden in xenograft models (PMID: 28235199). | 28235199 |