SWISSVAR

1 protein found in SwissVar (8 variants)

with gene/protein name P54132

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)
P54132 BLM_HUMAN bloom syndrome p.Gln672Arg
p.Ile841Thr
p.Thr843Ile
p.Cys878Arg
p.Gly891Glu
p.Cys901Tyr
p.Cys1036Phe
p.Cys1055Ser