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Gene | RET |
Variant | C634Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C634Y lies within the cysteine-rich region of the Ret protein (PMID: 9230192). C634Y results in formation of covalent Ret homodimers, increased Ret phosphorylation and activation of downstream signaling, resistance to apoptosis, and is transforming in cell culture (PMID: 9230192, PMID: 10919641). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C634Y RET mutant RET C634X RET C634Y |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114501G>A |
cDNA | c.1901G>A |
Protein | p.C634Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |