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Gene | FGFR1 |
Variant | G703S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 G703S lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G703S results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but transformation activity similar to wild-type Fgfr1 (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 G703S |
Transcript | NM_023110.3 |
gDNA | chr8:g.38414231C>T |
cDNA | c.2107G>A |
Protein | p.G703S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |