SWISSVAR

1 protein found in SwissVar (19 variants)

with gene/protein name O15528

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)
O15528 CP27B_HUMAN p.Val166Leu

O15528 CP27B_HUMAN rickets vitamin d-dependent 1a p.Gln65His
p.Arg107His
p.Gly125Glu
p.Glu189Gly
p.Glu189Lys
p.Thr321Arg
p.Ser323Tyr
p.Arg335Pro
p.Leu343Phe
p.Pro382Ser
p.Arg389Gly
p.Arg389Cys
p.Arg389His
p.Thr409Ile
p.Arg429Pro
p.Arg453Cys
p.Val478Gly
p.Pro497Arg