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| Gene | NRAS |
| Variant | G12R |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| 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 (PMID: 34117033), demonstrates Erk phosphorylation similar to wild-type Nras but increased Stat5 phosphorylation in culture (PMID: 35211470), and is transforming (PMID: 34117033, PMID: 35211470), and is predicted to lead to a loss of Nras protein function and activation of downstream signaling 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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