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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_020975.5 |
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_020975.5 | 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_020630.5 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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