FGFR2 N549K - Gene Variant Detail

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Gene FGFR2
Variant N549K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 N549K lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N549K confers a gain of function to the Fgfr2 protein resulting in a growth advantage relative to wild-type Fgfr2 in a competition assay, increased transformation activity in cultured cells (PMID: 34272467), oncogenic transformation in culture (PMID: 18552176, PMID: 17803937, PMID: 29533785) and increased MAPK pathway signaling in cultured cells (PMID: 19147536).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 N549K

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Transcript NM_000141.5
gDNA chr10:g.121498520A>C
cDNA c.1647T>G
Protein p.N549K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144919 chr10:g.121488066G>C c.1647C>G p.N549K RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121488066G>C c.1647C>G p.N549K RefSeq GRCh38/hg38
NM_000141 chr10:g.121498520A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_001144915.1 chr10:g.121488063A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_001144915.2 chr10:g.121488063A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121488063A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121488063A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498520A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_001144915 chr10:g.121488063A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_001144919.1 chr10:g.121488066G>C c.1647C>G p.N549K RefSeq GRCh38/hg38
NM_023029 chr10:g.121488063A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121498520A>C c.1647T>G p.N549K 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries