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Gene | NRAS |
Variant | E63K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | NRAS E63K does not lie within any known functional domains of the Nras protein (UniProt.org). E63K confers a loss of function on Nras protein as demonstrated by increased GTP-bound Nras leading to activation of downstream signaling, and is associated with resistance to Egfr inhibitors in culture (PMID: 25870145). |
Associated Drug Resistance | Y |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS E63K NRAS mutant NRAS exon3 NRAS E63K |
Transcript | NM_002524.5 |
gDNA | chr1:g.114713903C>T |
cDNA | c.187G>A |
Protein | p.E63K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524 | chr1:g.114713903C>T | c.187G>A | p.E63K | RefSeq | GRCh38/hg38 |
NM_002524.5 | chr1:g.114713903C>T | c.187G>A | p.E63K | RefSeq | GRCh38/hg38 |
NM_002524.4 | chr1:g.114713903C>T | c.187G>A | p.E63K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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