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Gene | FGFR1 |
Variant | R209H |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR1 R209H lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). R209H has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 R209H |
Transcript | NM_023110.3 |
gDNA | chr8:g.38426241C>T |
cDNA | c.626G>A |
Protein | p.R209H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |