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Gene FGFR2
Variant M537I
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 M537I (also referred to as M538I from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M537I results in elevated kinase activity compared to wild-type Fgfr2 protein in substrate phosphorylation assays (PMID: 28166054), 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 M537I

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Transcript NM_000141.5
gDNA chr10:g.121498556C>G
cDNA c.1611G>C
Protein p.M537I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121498556C>G c.1611G>C p.M537I RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498556C>G c.1611G>C p.M537I RefSeq GRCh38/hg38
NM_000141 chr10:g.121498556C>G c.1611G>C p.M537I 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References