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Gene | RET |
Variant | R886W |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET R886W lies within the protein kinase domain of the Ret protein (UniProt.org). R886W confers a gain of function to the Ret protein as demonstrated by increased Erk1/2, Stat1/3, and Tcf activation and transformation of cultured cells (PMID: 21551259). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET R886W |
Transcript | NM_020975.6 |
gDNA | chr10:g.43120129C>T |
cDNA | c.2656C>T |
Protein | p.R886W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406766.1 | chr10:g.43124887_43124889delCGCinsTGG | c.2656_2658delCGCinsTGG | p.R886W | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43120129C>T | c.2656C>T | p.R886W | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43120129C>T | c.2656C>T | p.R886W | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43120129C>T | c.2656C>T | p.R886W | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43120129C>T | c.2656C>T | p.R886W | RefSeq | GRCh38/hg38 |
NM_001406770.1 | chr10:g.43124887_43124889delCGCinsTGG | c.2656_2658delCGCinsTGG | p.R886W | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43120129C>T | c.2656C>T | p.R886W | RefSeq | GRCh38/hg38 |
NM_001406767.1 | chr10:g.43124887_43124889delCGCinsTGG | c.2656_2658delCGCinsTGG | p.R886W | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43120129C>T | c.2656C>T | p.R886W | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43120129C>T | c.2656C>T | p.R886W | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43120129C>T | c.2656C>T | p.R886W | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43120129C>T | c.2656C>T | p.R886W | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43120129C>T | c.2656C>T | p.R886W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET R886W | Advanced Solid Tumor | sensitive | Sorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing RET R886W were sensitive to treatment with Nexavar (sorafenib) in culture, demonstrating reduced cell proliferation (PMID: 21551259). | 21551259 |