RET G691S
Gene Variant Detail

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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 is a common polymorphism (PMID: 39671698, PMID: 26191299) that 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

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Transcript NM_020975.6
gDNA chr10:g.43114671G>A
cDNA c.2071G>A
Protein p.G691S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38
NM_001406772.1 chr10:g.43119605_43119607delGGGinsAGC c.2071_2073delGGGinsAGC p.G691S RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38
NM_001406788.1 chr10:g.43128180_43128182delGGGinsAGC c.2071_2073delGGGinsAGC p.G691S RefSeq GRCh38/hg38
NM_001406769.1 chr10:g.43119605_43119607delGGGinsAGC c.2071_2073delGGGinsAGC p.G691S RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43116653_43116655delGGAinsAGC c.2071_2073delGGAinsAGC p.G691S RefSeq GRCh38/hg38
NM_001406789.1 chr10:g.43128180_43128182delGGGinsAGC c.2071_2073delGGGinsAGC p.G691S RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43116653_43116655delGGAinsAGC c.2071_2073delGGAinsAGC p.G691S RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38
NM_020975 chr10:g.43114671G>A c.2071G>A p.G691S RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET G691S Advanced Solid Tumor predicted - sensitive Dovitinib Case Reports/Case Series Actionable In a Phase I clinical trial, two patients with germline RET G691S mutations demonstrated sensitivity to Dovitinib (TKI258) treatment (PMID: 25103625). 25103625