1 protein found in SwissVar (20 variants)
with gene/protein name P21912
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) |
|---|---|---|---|---|
| P21912 | DHSB_HUMAN | p.Ala3Gly p.Lys40Glu p.Ser163Pro |
| |
| P21912 | DHSB_HUMAN | pheochromocytoma | p.Ala43Pro p.Arg46Gly p.Arg46Gln p.Gly53Arg p.Leu65His p.Leu65Pro p.Leu87Ser p.Ser100Phe p.Cys101Tyr p.Ile127Asn p.Cys192Arg p.Cys196Tyr p.Arg230Cys p.Arg242His |
|
| P21912 | DHSB_HUMAN | paragangliomas 4 | p.Arg46Gln p.Pro131Arg p.His132Pro p.Pro197Arg p.Arg242His |
|
| P21912 | DHSB_HUMAN | paraganglioma and gastric stromal sarcoma | ||
| P21912 | DHSB_HUMAN | cowden-like syndrome |