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Gene | NRAS |
Variant | G13R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | NRAS G13R is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G13R results in increased MAPK/ERK pathway activation in an in vitro assay, is transforming in culture (PMID: 34117033), and can be predicted to lead to a loss of Nras protein function based on the effects of other NRAS G13 mutations. |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G13R NRAS mutant NRAS exon2 NRAS G13X NRAS G13R |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716124C>G |
cDNA | c.37G>C |
Protein | p.G13R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524.5 | chr1:g.114716124C>G | c.37G>C | p.G13R | RefSeq | GRCh38/hg38 |
NM_002524.4 | chr1:g.114716124C>G | c.37G>C | p.G13R | RefSeq | GRCh38/hg38 |
NM_002524 | chr1:g.114716124C>G | c.37G>C | p.G13R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
NRAS G13R | melanoma | predicted - sensitive | Binimetinib + Ribociclib | Case Reports/Case Series | Actionable | In a Phase Ib/II trial, combination treatment with Mektovi (binimetinib) and Kisqali (ribociclib) resulted in a partial response lasting 119 days in a patient with melanoma harboring NRAS G13R (PMID: 29496665; NCT01781572). | 29496665 |