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Gene | RET |
Variant | C634S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C634S lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C634S confers a gain of function on the Ret protein as demonstrated by constitutive phosphorylation of Mapk and transformation of cultured cells (PMID: 15277225, PMID: 9230192). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C634S RET mutant RET C634X RET C634S |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114500T>A |
cDNA | c.1900T>A |
Protein | p.C634S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |