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 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_001406759.1 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_001406772.1 chr10:g.43119605_43119607delGGGinsAGC c.2071_2073delGGGinsAGC p.G691S RefSeq GRCh38/hg38
NM_001406769.1 chr10:g.43119605_43119607delGGGinsAGC c.2071_2073delGGGinsAGC p.G691S RefSeq GRCh38/hg38
NM_001406744.1 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
NM_001406763.1 chr10:g.43116653_43116655delGGAinsAGC c.2071_2073delGGAinsAGC p.G691S RefSeq GRCh38/hg38
NM_020630.7 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_020975.6 chr10:g.43114671G>A c.2071G>A 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_001406789.1 chr10:g.43128180_43128182delGGGinsAGC c.2071_2073delGGGinsAGC p.G691S RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43116653_43116655delGGAinsAGC c.2071_2073delGGAinsAGC p.G691S RefSeq GRCh38/hg38
NM_001406788.1 chr10:g.43128180_43128182delGGGinsAGC c.2071_2073delGGGinsAGC p.G691S RefSeq GRCh38/hg38
NM_020630 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