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Gene RET
Variant V804L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET V804L lies within the protein kinase domain of the Ret protein (UniProt.org). V804L confers a gain of function on the Ret protein, as indicated by increased kinase activity, cell transformation (PMID: 9242375), and is considered a gatekeeper mutation due to lack of response to some inhibitors, including cabozantinib and vandetanib (PMID: 27712045).
Associated Drug Resistance Y
Category Variants Paths

RET mutant RET act mut RET V804L

RET mutant RET V804X RET V804L

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Transcript NM_020975.6
gDNA chr10:g.43119548G>C
cDNA c.2410G>C
Protein p.V804L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406760.1 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020630 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020975 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43119548G>C c.2410G>C p.V804L RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43119548G>C c.2410G>C p.V804L 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 )
  • 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 Protein Effect Treatment Approaches
RET V804L gain of function RET Inhibitor