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Gene | FGFR1 |
Variant | Y372C |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR1 Y372C (corresponds to Y374C in the canonical isoform) lies within the extracellular domain of the Fgfr1 protein (UniProt.org). Y372C results in increased basal and ligand induced Fgfr1 activity in a luciferace assay (PMID: 15625620), 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 Y372C |
Transcript | NM_015850.4 |
gDNA | chr8:g.38419696T>C |
cDNA | c.1115A>G |
Protein | p.Y372C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |