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Gene FGFR1
Variant K517R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 K517R lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K517R results in reduced Fgfr1 SUMOylation in in vitro assays (PMID: 35733256), but has not been fully biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 K517R

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Transcript NM_023110.3
gDNA chr8:g.38417872T>C
cDNA c.1550A>G
Protein p.K517R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023110.3 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
XM_006716304 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
XM_006716303 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
XM_017013221 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
NM_023110 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38417872T>C c.1550A>G p.K517R RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38417872T>C c.1550A>G p.K517R 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
FGFR1 K517R unknown