FGFR1 D647N
Gene Variant Detail

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Gene FGFR1
Variant D647N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR1 D647N lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). D647N demonstrates ATP affinity similar to wild-type Fgfr1 (PMID: 37778450), but results in increased ligand-independent phosphorylation of Fgfr1 (PMID: 34826586, PMID: 37778450), downstream signaling, migration, invasion, and angiogenesis in culture (PMID: 37778450).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 D647N

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Transcript NM_023110.3
gDNA chr8:g.38414817C>T
cDNA c.1939G>A
Protein p.D647N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006716303.3 chr8:g.38414817C>T c.1939G>A p.D647N RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38414817C>T c.1939G>A p.D647N RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38414817C>T c.1939G>A p.D647N RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38414817C>T c.1939G>A p.D647N RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38414817C>T c.1939G>A p.D647N RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38414817C>T c.1939G>A p.D647N RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38414817C>T c.1939G>A p.D647N RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38414817C>T c.1939G>A p.D647N 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 D647N breast cancer sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, Balversa (erdafitinib) treatment resulted in decreased Fgfr1 phosphorylation in a cell line expressing FGFR1 D647N and reduced migration in breast cancer cells expressing FGFR1 D647N in culture (PMID: 37778450). 37778450