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Gene | NRAS |
Variant | G60E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | NRAS G60E lies within the nucleotide binding domain of the Nras protein (UniProt.org). G60E confers a loss of function on Nras as indicated by accumulation of GTP-bound Nras, loss of response to GTPase-activating proteins, leading to activation of downstream signaling and cell proliferation in culture (PMID: 19966803, PMID: 19075190). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G60E NRAS mutant NRAS exon3 NRAS G60E |
Transcript | NM_002524.5 |
gDNA | chr1:g.114713911C>T |
cDNA | c.179G>A |
Protein | p.G60E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524 | chr1:g.114713911C>T | c.179G>A | p.G60E | RefSeq | GRCh38/hg38 |
NM_002524.5 | chr1:g.114713911C>T | c.179G>A | p.G60E | RefSeq | GRCh38/hg38 |
NM_002524.4 | chr1:g.114713911C>T | c.179G>A | p.G60E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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