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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_002524.4 | 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 |
NM_002524 | chr1:g.114713970G>T | c.120C>A | p.Y40* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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