1 protein found in SwissVar (6 variants)
with gene/protein name Q14739
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) |
|---|---|---|---|---|
| Q14739 | LBR_HUMAN | p.Ser154Asn p.Arg169Cys p.Thr311Ala |
| |
| Q14739 | LBR_HUMAN | pelger-huet anomaly | p.Pro119Leu p.Pro569Arg |
|
| Q14739 | LBR_HUMAN | hydrops-ectopic calcification-moth-eaten skeletal dysplasia | ||
| Q14739 | LBR_HUMAN | reynolds syndrome | p.Arg372Cys |
|
