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Gene | NRAS |
Variant | G12R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | NRAS G12R is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12R results in increased MAPK/ERK pathway activation in an in vitro assay, is transforming in culture (PMID: 34117033), and is predicted to lead to a loss of Nras protein function based on the effects of HRAS G12R (PMID: 3042780, PMID: 6092966). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12R NRAS mutant NRAS exon2 NRAS G12X NRAS G12R |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716127C>G |
cDNA | c.34G>C |
Protein | p.G12R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524.4 | chr1:g.114716127C>G | c.34G>C | p.G12R | RefSeq | GRCh38/hg38 |
NM_002524 | chr1:g.114716127C>G | c.34G>C | p.G12R | RefSeq | GRCh38/hg38 |
NM_002524.5 | chr1:g.114716127C>G | c.34G>C | p.G12R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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