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Gene FGFR2
Variant V248D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 V248D lies within the extracellular domain of the Fgfr2 protein (UniProt.org). V248D is predicted to destabilize the tertiary fold of the Fgfr2 protein based on structural modeling (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 V248D

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Transcript NM_000141.5
gDNA chr10:g.121538597A>T
cDNA c.743T>A
Protein p.V248D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144917 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001144914 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001144913 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_000141 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_022970 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001320658 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121538597A>T c.743T>A p.V248D RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121538597A>T c.743T>A p.V248D 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 )
  • 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

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