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Gene | RET |
Variant | C515W |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C515W lies within the extracellular domain of the Ret protein (UniProt.org). C515W results in increased cell proliferation, S-phase progression, colony formation, cell migration, Ret autophosphorylation, and ERK1/2 and S6 phosphorylation relative to wild-type Ret in culture (PMID: 25725622). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C515W |
Transcript | NM_020975.6 |
gDNA | chr10:g.43112121C>G |
cDNA | c.1545C>G |
Protein | p.C515W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406760.1 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406766.1 | chr10:g.43113629C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406764.1 | chr10:g.43112878C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406770.1 | chr10:g.43113629C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43112121C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406762.1 | chr10:g.43112878C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406768.1 | chr10:g.43112878C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406767.1 | chr10:g.43113629C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
NM_001406761.1 | chr10:g.43112878C>G | c.1545C>G | p.C515W | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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