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 | FANCA |
Variant | S734F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA S734F does not lie within any known functional domains of the Fanca protein (UniProt.org). S734F has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA S734F |
Transcript | NM_000135.4 |
gDNA | chr16:g.89770585G>A |
cDNA | c.2201C>T |
Protein | p.S734F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |