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Gene | RET |
Variant | C611Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C611Y lies within the extracellular domain of the Ret protein (UniProt.org). C611Y confers a gain of function on the Ret protein as indicated by dimerization of Ret and transformation of cultured cells (PMID: 9230192). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C611Y RET mutant RET C611X RET C611Y |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113628G>A |
cDNA | c.1832G>A |
Protein | p.C611Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |