1 protein found in SwissVar (38 variants)
with gene/protein name O60260
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) |
|---|---|---|---|---|
| O60260 | PRKN2_HUMAN | p.Gln100His p.Ser167Asn p.Met192Leu p.Arg271Ser p.Ala339Ser p.Arg366Trp p.Val380Leu p.Asp394Asn |
| |
| O60260 | PRKN2_HUMAN | parkinson disease | p.Val15Met p.Arg33Gln p.Arg42Pro p.Ala46Pro p.Ala82Glu p.Lys161Asn p.Met192Val p.Lys211Asn p.Lys211Arg p.Thr240Met p.Cys253Tyr p.Arg256Cys p.Arg275Trp p.Asp280Asn p.Cys289Gly p.Gln311Arg p.Gly328Glu p.Arg334Cys p.Ala371Thr p.Thr415Asn p.Gly430Asp p.Pro437Leu p.Cys441Arg |
|
| O60260 | PRKN2_HUMAN | parkinson disease 2 | p.Pro37Leu p.Ala82Glu p.Ala92Val p.Lys161Asn p.Cys212Tyr p.Thr240Arg p.Arg256Cys p.Arg275Trp p.Gly284Arg p.Thr351Pro p.Thr415Asn p.Cys431Phe |
|
| O60260 | PRKN2_HUMAN | development and/or progression of ovarian cancer |