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Gene | RET |
Variant | C634L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C634L lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C634L results in ligand-independent dimerization of Ret and increased cell proliferation in culture (PMID: 27841748). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C634L RET mutant RET C634X RET C634L |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114500_43114501delTGinsCT |
cDNA | c.1900_1901delTGinsCT |
Protein | p.C634L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |