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Gene | RET |
Variant | C611W |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET C611W lies within the extracellular domain of the Ret protein (UniProt.org). C611W is transforming in cell culture (PMID: 9230192), 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 C611W RET mutant RET C611X RET C611W |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113629C>G |
cDNA | c.1833C>G |
Protein | p.C611W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |