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Gene | NRAS |
Variant | G12P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | NRAS G12P is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12P has not been characterized, but can be predicted to lead to a loss of Nras protein function based on the effect of HRAS G12P, which demonstrates intrinsic hydrolysis rate similar to wild-type protein but has decreased affinity for GTPase-activating proteins, and is not transforming in cell culture (PMID: 6092966, PMID: 8357792). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12P NRAS mutant NRAS exon2 NRAS G12X NRAS G12P |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716126_114716127delGGinsCC |
cDNA | c.34_35delGGinsCC |
Protein | p.G12P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524.5 | chr1:g.114716126_114716127delGGinsCC | c.34_35delGGinsCC | p.G12P | RefSeq | GRCh38/hg38 |
NM_002524 | chr1:g.114716126_114716127delCCinsGG | c.34_35delGGinsCC | p.G12P | RefSeq | GRCh38/hg38 |
NM_002524.4 | chr1:g.114716126_114716127delGGinsCC | c.34_35delGGinsCC | p.G12P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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