SWISSVAR

1 protein found in SwissVar (12 variants)

with gene/protein name Q4G176

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q4G176 ACSF3_HUMAN p.Leu2Pro
p.Ala17Pro
p.Val372Met



Q4G176 ACSF3_HUMAN combined malonic and methylmalonic aciduria p.Met198Arg
p.Pro243Leu
p.Thr358Ile
p.Glu359Lys
p.Lys462Thr
p.Arg471Gln
p.Arg471Trp
p.Gly480Ser
p.Arg558Trp