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Gene | RET |
Variant | G691S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET G691S lies within the cytoplasmic domain of the Ret protein (UniProt.org). G691S results in increased Ret phosphorylation and activation of downstream signaling pathways in response to Gdnf, and increased invasion in cultured cells (PMID: 16357163, PMID: 19561646), but in another study results in focus formation and proliferation similar to wild-type RET in cultured cells (PMID: 21810974), and therefore, its effect on Ret protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET G691S |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114671G>A |
cDNA | c.2071G>A |
Protein | p.G691S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |