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Gene | RET |
Variant | Y806C |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET Y806C lies within the protein kinase domain of the Ret protein (UniProt.org). Y806C is predicted to lead to a gain of Ret protein function as indicated by transformation of cultured cells (PMID: 10679286), and has also been demonstrated to occur as a secondary resistance mutation in conjunction with other RET mutations (PMID: 19029224). |
Associated Drug Resistance | Y |
Category Variants Paths |
RET mutant RET act mut RET Y806C |
Transcript | NM_020975.6 |
gDNA | chr10:g.43119555A>G |
cDNA | c.2417A>G |
Protein | p.Y806C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |