1 protein found in SwissVar (17 variants)
with gene/protein name P54132
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) |
|---|---|---|---|---|
| P54132 | BLM_HUMAN | p.Lys137Arg p.Thr298Met p.Arg591Gln p.Pro868Leu p.Ala1043Asp p.Val1205Ile p.Ser1209Thr p.Glu1213Lys p.Val1321Ile |
| |
| P54132 | BLM_HUMAN | bloom syndrome | p.Gln672Arg p.Ile841Thr p.Thr843Ile p.Cys878Arg p.Gly891Glu p.Cys901Tyr p.Cys1036Phe p.Cys1055Ser |
|