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Gene | RET |
Variant | C609W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET C609W lies within the extracellular domain of the Ret protein (UniProt.org). The functional effect of C609W is conflicting as it reduces cell surface Ret expression, results in a loss of response to GDNF-regulated apoptosis, but also induces Ret dimerization, leads to increased phosphorylation of Shc, and transformation of cultured cells (PMID: 9502784, PMID: 10921886), and therefore, its effect on Ret protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET C609X RET C609W |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113623C>G |
cDNA | c.1827C>G |
Protein | p.C609W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |