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Gene FGFR2
Variant H416R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 H416R lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). H416R results in proliferation similar to wild-type Fgfr2 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 H416R

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Transcript NM_000141.5
gDNA chr10:g.121515157T>C
cDNA c.1247A>G
Protein p.H416R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121515157T>C c.1247A>G p.H416R RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121515157T>C c.1247A>G p.H416R RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121515157T>C c.1247A>G p.H416R RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121515157T>C c.1247A>G p.H416R RefSeq GRCh38/hg38

Filtering

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  • 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