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_001144913.1 chr10:g.121498522T>C c.1648A>G p.N550D RefSeq GRCh38/hg38
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_001144914.1 chr10:g.121487993T>C c.1648A>G p.N550D 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 )
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
FGFR2 N550D gain of function - predicted FGFR Inhibitor (Pan) FGFR2 Inhibitor
FGFR2 C382R FGFR2 N550D
FGFR2 C383R FGFR2 N550D
FGFR2 C383R FGFR2 N550D FGFR2 N550K FGFR2 V565L
FGFR2 rearrange FGFR2 N550D FGFR2 N550H FGFR2 N550K FGFR2 N550T FGFR2 V565I FGFR2 V565L
FGFR2 C382R FGFR2 M538I FGFR2 N550D FGFR2 V565I