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Gene | FGFR1 |
Variant | S430F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 S430F lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). S430F has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 S430F |
Transcript | NM_023110.3 |
gDNA | chr8:g.38418369G>A |
cDNA | c.1289C>T |
Protein | p.S430F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |