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Gene | RET |
Variant | K666N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET K666N lies within the cytoplasmic domain of the Ret protein (UniProt.org). K666N results in increased Ret autophosphorylation and Erk phosphorylation and is transforming in culture (PMID: 20103606). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET K666N |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114598G>C |
cDNA | c.1998G>C |
Protein | p.K666N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |