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Gene | NRAS |
Variant | G12A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | NRAS G12A is hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12A has not been characterized, but can be predicted to confer a loss of function to the Nras protein based on the effects of HRAS G12A and KRAS G12A, which results in decreased GTPase activity, loss of response to GTPase-activating proteins, and transformation of cultured cells (PMID: 6092966, PMID: 26037647). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12A NRAS mutant NRAS exon2 NRAS G12X NRAS G12A |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716126C>G |
cDNA | c.35G>C |
Protein | p.G12A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524.4 | chr1:g.114716126C>G | c.35G>C | p.G12A | RefSeq | GRCh38/hg38 |
NM_002524.5 | chr1:g.114716126C>G | c.35G>C | p.G12A | RefSeq | GRCh38/hg38 |
NM_002524 | chr1:g.114716126C>G | c.35G>C | p.G12A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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