Gene Variant Detail

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Gene FGFR3
Variant E686K
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions FGFR3 E686K lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). E686K results in proliferation similar to wild-type Fgfr3 in a competition assay and transformation activity similar to wild-type Fgfr3 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr3 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 E686K

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Transcript NM_000142.5
gDNA chr4:g.1806571G>A
cDNA c.2056G>A
Protein p.E686K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873 chr4:g.1806571G>A c.2056G>A p.E686K RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806571G>A c.2056G>A p.E686K RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1806571G>A c.2056G>A p.E686K RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806571G>A c.2056G>A p.E686K RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806571G>A c.2056G>A p.E686K RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1806571G>A c.2056G>A p.E686K RefSeq GRCh38/hg38
NM_000142 chr4:g.1806571G>A c.2056G>A p.E686K RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1806571G>A c.2056G>A p.E686K RefSeq GRCh38/hg38

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  • 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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries