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Gene | FGFR1 |
Variant | D128V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 D128V lies within the extracellular domain of the Fgfr1 protein (UniProt.org). D128V results in altered proliferation relative to wild-type Fgfr1 in a competition assay, but results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 D128V |
Transcript | NM_023110.3 |
gDNA | chr8:g.38428411T>A |
cDNA | c.383A>T |
Protein | p.D128V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |