1 protein found in SwissVar (25 variants)
with gene/protein name P51168
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) |
|---|---|---|---|---|
| P51168 | SCNNB_HUMAN | p.Ala336Pro p.Val434Met p.Gly442Val p.Arg563Gln p.Gly589Ser p.Thr594Met p.Arg597His p.Arg624Cys p.Glu632Gly |
| |
| P51168 | SCNNB_HUMAN | breast cancer | p.Ala314Val p.Leu387Val |
|
| P51168 | SCNNB_HUMAN | colorectal cancer | p.Ala311Val |
|
| P51168 | SCNNB_HUMAN | pseudohypoaldosteronism 1, autosomal recessive | p.Gly37Ser |
|
| P51168 | SCNNB_HUMAN | liddle syndrome | p.Pro616Ser p.Pro616Leu p.Pro617Ser p.Pro618Arg p.Tyr620His |
|
| P51168 | SCNNB_HUMAN | bronchiectasis with or without elevated sweat chloride 1 | p.Ser82Cys p.Pro267Leu p.Asn288Ser p.Gly294Ser p.Val348Met p.Pro369Thr p.Glu539Lys |
|