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Gene | FGFR1 |
Variant | S135F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 S135F lies within the extracellular domain of the Fgfr1 protein (UniProt.org). S135F has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 S135F |
Transcript | NM_023110.3 |
gDNA | chr8:g.38428390G>A |
cDNA | c.404C>T |
Protein | p.S135F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |