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Gene | FGFR1 |
Variant | R475Q |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR1 R475Q lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). R475Q results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 R475Q |
Transcript | NM_023110.3 |
gDNA | chr8:g.38418234C>T |
cDNA | c.1424G>A |
Protein | p.R475Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |