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| Gene | NRAS |
| Variant | Y40* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | NRAS Y40* results in a premature truncation of the Nras protein at amino acid 40 of 189 (UniProt.org). Due to the loss of GTP binding regions (UniProt.org), Y40* is predicted to lead to a loss of Nras protein function resulting in inactivation of downstream signaling. |
| Associated Drug Resistance | |
| Category Variants Paths |
NRAS mutant NRAS exon3 NRAS Y40* NRAS mutant NRAS inact mut NRAS Y40* |
| Transcript | NM_002524.5 |
| gDNA | chr1:g.114713970G>T |
| cDNA | c.120C>A |
| Protein | p.Y40* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002524 | chr1:g.114713970G>T | c.120C>A | p.Y40* | RefSeq | GRCh38/hg38 |
| NM_002524.4 | chr1:g.114713970G>T | c.120C>A | p.Y40* | RefSeq | GRCh38/hg38 |
| NM_002524.5 | chr1:g.114713970G>T | c.120C>A | p.Y40* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| NRAS Y40* | loss of function - predicted |