Gene Variant Detail

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Gene RET
Variant C618R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C618R lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C618R results in constitutive Ret phosphorylation and increased Ret kinase activity, but decreased Ret cell surface expression, and is transforming in cell culture (PMID: 9230192, PMID: 9879991).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C618R

RET mutant RET C618X RET C618R

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Transcript NM_020975.6
gDNA chr10:g.43113648T>C
cDNA c.1852T>C
Protein p.C618R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406765.1 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_020975 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_020630 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43113648T>C c.1852T>C p.C618R RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43113648T>C c.1852T>C p.C618R 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