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Gene RET
Variant R694Q
Impact List missense
Protein Effect no effect
Gene Variant Descriptions RET R694Q lies within the cytoplasmic domain of the Ret protein (UniProt.org). R694Q fails to transform cells (PMID: 15472167) and results in Ret phosphorylation (PMID: 15472167, PMID: 26395553) and phosphorylation of Erk similar to wild-type Ret in cell culture (PMID: 26395553).
Associated Drug Resistance
Category Variants Paths

RET mutant RET R694Q

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Transcript NM_020975.6
gDNA chr10:g.43114681G>A
cDNA c.2081G>A
Protein p.R694Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630.7 chr10:g.43114681G>A c.2081G>A p.R694Q RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114681G>A c.2081G>A p.R694Q RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114681G>A c.2081G>A p.R694Q RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114681G>A c.2081G>A p.R694Q RefSeq GRCh38/hg38
NM_001406788.1 chr10:g.43128189_43128190delAGinsCA c.2080_2081delAGinsCA p.R694Q RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114681G>A c.2081G>A p.R694Q RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114681G>A c.2081G>A p.R694Q RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114681G>A c.2081G>A p.R694Q RefSeq GRCh38/hg38
NM_001406789.1 chr10:g.43128189_43128190delAGinsCA c.2080_2081delAGinsCA p.R694Q RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114681G>A c.2081G>A p.R694Q RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References