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| Gene | NRAS |
| Variant | G12C |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | NRAS G12C is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12C does not result in activation of Erk1/2 or Stat5 signaling but results in transformation in culture (PMID: 35211470) and can be predicted to confer a loss of function to the Nras protein based on the effects of HRAS G12C and KRAS G12C, which result in a loss of response to GTPase-activating proteins, and transformation of cultured cells (PMID: 26037647, PMID: 6092966). |
| Associated Drug Resistance | |
| Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12C NRAS mutant NRAS exon2 NRAS G12X NRAS G12C |
| Transcript | NM_002524.5 |
| gDNA | chr1:g.114716127C>A |
| cDNA | c.34G>T |
| Protein | p.G12C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002524 | chr1:g.114716127C>A | c.34G>T | p.G12C | RefSeq | GRCh38/hg38 |
| NM_002524.4 | chr1:g.114716127C>A | c.34G>T | p.G12C | RefSeq | GRCh38/hg38 |
| NM_002524.5 | chr1:g.114716127C>A | c.34G>T | p.G12C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| NRAS G12C | loss of function - predicted | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor RAS Inhibitor (Pan) |
| FLT3 exon 14 ins NRAS G12C |