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Gene | RET |
Variant | C609S |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET C609S lies within the extracellular domain of the Ret protein (UniProt.org). C609S results in ligand-independent Ret autophosphorylation in culture (PMID: 16343103), and therefore, is predicted to lead to a gain of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C609S RET mutant RET C609X RET C609S |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113621T>A |
cDNA | c.1825T>A |
Protein | p.C609S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |