SWISSVAR
Home  |  Contact

1 protein found in SwissVar (1 variants)

with gene/protein name Q96AP0

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)
Q96AP0 ACD_HUMAN dyskeratosis congenita, autosomal dominant, 6
Q96AP0 ACD_HUMAN dyskeratosis congenita, autosomal recessive, 7 p.Pro491Thr