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Gene | RET |
Variant | C620Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C620Y lies within the extracellular domain of the Ret protein (UniProt.org). C620Y results in constitutive dimerization of Ret, increased Ret kinase activity, and is transforming in cell culture (PMID: 9012462). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C620Y RET mutant RET C620X RET C620Y |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113655G>A |
cDNA | c.1859G>A |
Protein | p.C620Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |