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| Gene | NRAS |
| Variant | G12V |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | NRAS G12V is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12V confers a loss of function on Nras protein as indicated by accumulation of GTP-bound Nras, loss of GTPase-activating protein sensitivity (PMID: 19966803), leading to increased Erk and Stat5 phosphorylation and transforming activity in cell culture (PMID: 19966803, PMID: 35211470). |
| Associated Drug Resistance | |
| Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12V NRAS mutant NRAS exon2 NRAS G12X NRAS G12V |
| Transcript | NM_002524.5 |
| gDNA | chr1:g.114716126C>A |
| cDNA | c.35G>T |
| Protein | p.G12V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002524 | chr1:g.114716126C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
| NM_002524.4 | chr1:g.114716126C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
| NM_002524.5 | chr1:g.114716126C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| NRAS G12V | loss of function | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor RAS Inhibitor (Pan) |
| BRAF V600E NRAS G12V | ||
| BRAF V600E CDKN2A loss NRAS G12V | ||
| BRAF G469E NRAS G12V | ||
| BRAF V600E CDKN2A del NRAS G12V |