SWISSVAR
Home  |  Contact

1 protein found in SwissVar (26 variants)

with gene/protein name P51648

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)
P51648 AL3A2_HUMAN sjoegren-larsson syndrome p.Ile45Phe
p.Val64Asp
p.Leu106Arg
p.Pro114Leu
p.Pro121Leu
p.Thr184Arg
p.Thr184Met
p.Gly185Ala
p.Cys214Tyr
p.Cys226Trp
p.Arg228Cys
p.Cys237Tyr
p.Asp245Asn
p.Lys266Asn
p.Tyr279Asn
p.Pro315Ser
p.Met328Ile
p.Ser365Leu
p.Asn386Ser
p.Gly406Arg
p.His411Tyr
p.Gly412Arg
p.Ser415Asn
p.Phe419Ser
p.Arg423His
p.Lys447Glu