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Gene | RET |
Variant | C618R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C618R lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C618R results in constitutive Ret phosphorylation and increased Ret kinase activity, but decreased Ret cell surface expression, and is transforming in cell culture (PMID: 9230192, PMID: 9879991). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C618R RET mutant RET C618X RET C618R |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113648T>C |
cDNA | c.1852T>C |
Protein | p.C618R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |