Gene Variant Detail

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Gene RET
Variant R813Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RET R813Q lies within the protein kinase domain of the Ret protein (UniProt.org). R813Q results in decreased Ret, Erk, and Mapk phosphorylation, reduced cell migration and colony formation compared to wild-type Ret protein in culture (PMID: 22729463, PMID: 22837065).
Associated Drug Resistance
Category Variants Paths

RET mutant RET inact mut RET R813Q

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Transcript NM_020975.6
gDNA chr10:g.43119576G>A
cDNA c.2438G>A
Protein p.R813Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630.7 chr10:g.43119576G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43119576G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43119576G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43119576G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43119576G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_020975 chr10:g.43119576G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43119576G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_001406771.1 chr10:g.43123745G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43119576G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43119576G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_001406773.1 chr10:g.43123745G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38
NM_020630 chr10:g.43119576G>A c.2438G>A p.R813Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries