FGFR1 I544V
Gene Variant Detail

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Gene FGFR1
Variant I544V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 I544V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). I544V demonstrates increased kinase activity compared to wild-type Fgfr1 in an in vitro assay (PMID: 28166054), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 I544V

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Transcript NM_023110.3
gDNA chr8:g.38417339T>C
cDNA c.1630A>G
Protein p.I544V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006716304.2 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
XM_006716303 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
NM_023110 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
XM_006716304 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
XM_017013221 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38417339T>C c.1630A>G p.I544V RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38417339T>C c.1630A>G p.I544V 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 )
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Molecular Profile Protein Effect Treatment Approaches
FGFR1 I544V gain of function - predicted FGFR Inhibitor (Pan) FGFR1 Inhibitor