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Gene | NRAS |
Variant | S65C |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | NRAS S65C does not lie within any known functional domains of the Nras protein (UniProt.org). S65C results in increased phosphorylation of Mek and Erk in cell culture (PMID: 24798740), and is predicted to confer a loss of function to the Nras protein based on the effects of other activating Ras mutations (PMID: 22589270). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS S65C NRAS mutant NRAS exon3 NRAS S65C |
Transcript | NM_002524.5 |
gDNA | chr1:g.114713897T>A |
cDNA | c.193A>T |
Protein | p.S65C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524.4 | chr1:g.114713897T>A | c.193A>T | p.S65C | RefSeq | GRCh38/hg38 |
NM_002524.5 | chr1:g.114713897T>A | c.193A>T | p.S65C | RefSeq | GRCh38/hg38 |
NM_002524 | chr1:g.114713897T>A | c.193A>T | p.S65C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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