FGFR2 N550D
Gene Variant Detail

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Gene FGFR2
Variant N550D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 N550D (corresponds to N549D in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550D (reported as N549D) results in growth factor-independent growth in a high-throughput cell culture assay (PMID: 41361008), 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 N550D

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Transcript NM_022970.4
gDNA chr10:g.121498522T>C
cDNA c.1648A>G
Protein p.N550D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144919.2 chr10:g.121488065T>C c.1648A>G p.N550D RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121498522T>C c.1648A>G p.N550D RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498522T>C c.1648A>G p.N550D RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487993T>C c.1648A>G p.N550D RefSeq GRCh38/hg38

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