SWISSVAR

1 protein found in SwissVar (17 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 p.Lys137Arg
p.Thr298Met
p.Arg591Gln
p.Gln672Arg
p.Ile841Thr
p.Thr843Ile
p.Pro868Leu
p.Cys878Arg
p.Gly891Glu
p.Cys901Tyr
p.Cys1036Phe
p.Ala1043Asp
p.Cys1055Ser
p.Val1205Ile
p.Ser1209Thr
p.Glu1213Lys
p.Val1321Ile