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Gene | RET |
Variant | C618Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C618Y lies within the extracellular domain of the Ret protein (UniProt.org). C618Y results in increased phosphorylation of Akt and Erk1/2, promotes colony formation (PMID: 31364476), and is transforming in cell culture (PMID: 9230192). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C618Y RET mutant RET C618X RET C618Y |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113649G>A |
cDNA | c.1853G>A |
Protein | p.C618Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |