Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | FGFR1 |
Variant | S125L |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR1 S125L lies within the extracellular domain of the Fgfr1 protein (UniProt.org). S125L 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 S125L |
Transcript | NM_023110.3 |
gDNA | chr8:g.38428420G>A |
cDNA | c.374C>T |
Protein | p.S125L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |