Gene Variant Detail

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Gene FGFR1
Variant K656*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR1 K656* results in a premature truncation of the Fgfr1 protein at amino acid 656 of 822 (UniProt.org). K656* 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 K656*

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Transcript NM_023110.3
gDNA chr8:g.38414790T>A
cDNA c.1966A>T
Protein p.K656*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023110.3 chr8:g.38414790T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38414790T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
XM_047421575.1 chr8:g.38415857T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
XM_011544450.3 chr8:g.38414198T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38414790T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
XM_017013226.2 chr8:g.38414198T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38414790T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
XM_011544449.2 chr8:g.38414198T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38414790T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38414790T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38414790T>A c.1966A>T p.K656* RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38414790T>A c.1966A>T p.K656* 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 )
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Molecular Profile Protein Effect Treatment Approaches
FGFR1 K656* loss of function - predicted