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Gene | FANCA |
Variant | G115R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA G115R does not lie within any known functional domains of the Fanca protein (UniProt.org). G115R has been identified in sequencing studies (PMID: 33685866), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA G115R |
Transcript | NM_000135.4 |
gDNA | chr16:g.89811012C>T |
cDNA | c.343G>A |
Protein | p.G115R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |