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 |
|
