FGFR2 N550K - Gene Variant Detail

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Gene FGFR2
Variant N550K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 N550K (corresponds to N549K in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550K results in increased Fgfr2 kinase activity (PMID: 32723837, PMID: 23908597) and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 N550K

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Transcript NM_022970.4
gDNA chr10:g.121498520A>C
cDNA c.1650T>G
Protein p.N550K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144914.1 chr10:g.121487991A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144919.1 chr10:g.121488063A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144914 chr10:g.121487991A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_022970 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144913 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487991A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121488063A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144919 chr10:g.121488063A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498520A>C c.1650T>G p.N550K 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
NCT01888562 Phase I Ponatinib Ponatinib in the Treatment of FGFR Mutation Positive Recurrent or Persistent Endometrial Carcinoma Withdrawn 0