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Gene | RET |
Variant | C634R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C634R lies within the extracellular domain of the Ret protein (UniProt.org). C634R results in autophosphorylation of Ret, and is transforming in cultured cells (PMID: 9242375, PMID: 10679286). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C634R RET mutant RET C634X RET C634R |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114500T>C |
cDNA | c.1900T>C |
Protein | p.C634R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |