SWISSVAR
Home  |  Contact

1 protein found in SwissVar (7 variants)

with gene/protein name Q13216

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)
Q13216 ERCC8_HUMAN cockayne syndrome a p.Ala160Thr
p.Ala160Val
p.Trp194Cys
p.Leu202Ser
p.Ala205Pro
p.Asp266Gly






Q13216 ERCC8_HUMAN uv-sensitive syndrome 2 p.Trp361Cys