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| Gene | NRAS |
| Variant | G12H |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | NRAS G12H is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12H results in Erk and Stat5 phosphorylation to similar levels of wild-type Nras, and transforming activity comparable to NRAS G12D in culture (PMID: 35211470), and therefore, is predicted to lead to a loss of Nras protein function and activation of downstream signaling based on the effects of other NRAS G12 mutations. |
| Associated Drug Resistance | |
| Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12H NRAS mutant NRAS exon2 NRAS G12X NRAS G12H |
| Transcript | NM_002524.5 |
| gDNA | chr1:g.114716126_114716127delGGinsCA |
| cDNA | c.34_35delGGinsCA |
| Protein | p.G12H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002524.5 | chr1:g.114716126_114716127delGGinsCA | c.34_35delGGinsCA | p.G12H | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| NRAS G12H | loss of function - predicted |