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Gene | NRAS |
Variant | E132K |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | NRAS E132K lies within the G domain of the Nras protein (PMID: 17384584). E132K does not affect cell proliferation or migration, but results in cytoskeletal disruption, decreased expression and aberrant localization of E-cadherin, and decreased cell adhesion compared to wild-type Nras in culture (PMID: 32620824), and therefore, is predicted to lead to a loss of Nras GTPase function. |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS E132K NRAS mutant NRAS exon4 NRAS E132K |
Transcript | NM_002524.5 |
gDNA | chr1:g.114709625C>T |
cDNA | c.394G>A |
Protein | p.E132K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524.4 | chr1:g.114709625C>T | c.394G>A | p.E132K | RefSeq | GRCh38/hg38 |
NM_002524.5 | chr1:g.114709625C>T | c.394G>A | p.E132K | RefSeq | GRCh38/hg38 |
NM_002524 | chr1:g.114709625C>T | c.394G>A | p.E132K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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