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Gene | RET |
Variant | C634W |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C634W lies within the extracellular domain of the Ret protein (UniProt.org). C634W results in ligand independent dimerization and constitutive activation of Ret, and is transforming in culture (PMID: 10918602, PMID: 9230192). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C634W RET mutant RET C634X RET C634W |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114502C>G |
cDNA | c.1902C>G |
Protein | p.C634W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |