1 protein found in SwissVar (27 variants)
with gene/protein name Q14191
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) |
|---|---|---|---|---|
| Q14191 | WRN_HUMAN | p.Lys32Arg p.Val114Ile p.Thr172Pro p.Asn240Lys p.Thr324Ala p.Gln329Arg p.Glu343Lys p.Leu383Phe p.Leu383Trp p.Met387Ile p.Asn533Ser p.Ser612Cys p.Ser708Phe p.Arg711Trp p.Gln724Leu p.Arg834Cys p.Ile912Ser p.Leu1074Phe p.Ser1079Leu p.Ser1133Ala p.Ser1141Leu p.Lys1269Glu p.Val1339Ile p.Cys1367Arg |
2FBTA (114) 2FBTA (172) | |
| Q14191 | WRN_HUMAN | werner syndrome | p.Lys125Asn p.Lys135Glu | 2FBTA
(125) 2FBYA (135) |
| Q14191 | WRN_HUMAN | colorectal cancer | p.Gly92Val | 2FBTA
(92) |