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RET C634S - Gene Variant Detail

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Gene RET
Variant C634S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C634S lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C634S confers a gain of function on the Ret protein as demonstrated by constitutive phosphorylation of Mapk and transformation of cultured cells (PMID: 15277225, PMID: 9230192).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C634S

RET mutant RET C634X RET C634S

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Transcript NM_020975.6
gDNA chr10:g.43114500T>A
cDNA c.1900T>A
Protein p.C634S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975.5 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_020975 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43123795T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_020630 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43123795T>A c.1900T>A p.C634S 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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Molecular Profile Protein Effect Treatment Approaches
RET C634S gain of function RET Inhibitor