Gene Variant Detail

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Gene FGFR1
Variant R646W
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR1 R646W lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). R646W results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 inact mut FGFR1 R646W

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Transcript NM_023110.3
gDNA chr8:g.38414820G>A
cDNA c.1936C>T
Protein p.R646W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006716304.1 chr8:g.38414820G>A c.1936C>T p.R646W RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38414820G>A c.1936C>T p.R646W RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38414820G>A c.1936C>T p.R646W RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38414820G>A c.1936C>T p.R646W RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38414820G>A c.1936C>T p.R646W RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38414820G>A c.1936C>T p.R646W RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38414820G>A c.1936C>T p.R646W RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38414820G>A c.1936C>T p.R646W 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