FGFR1 C381R
Gene Variant Detail

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Gene FGFR1
Variant C381R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 C381R lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). C381R is associated with increased phospho-Erk1/2 staining in a patient tumor sample (PMID: 30385747), and the corresponding variant in an alternate isoform (C379R) demonstrates constitutive Fgfr1 activity in a luciferase assay and increased Erk1/2 phosphorylation in cell culture (PMID: 26272615), and therefore, is predicted to lead to a gain of Fgfr1 function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 C381R

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Transcript NM_023110.3
gDNA chr8:g.38419676A>G
cDNA c.1141T>C
Protein p.C381R
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • 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")

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