SWISSVAR
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1 protein found in SwissVar (29 variants)

with gene/protein name Q02846

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)
Q02846 GUC2D_HUMAN leber congenital amaurosis 1 p.Ala52Ser
p.Thr55Met
p.Glu103Val
p.Cys105Tyr
p.Thr312Met
p.Leu325Pro
p.Leu325Arg
p.Ala362Ser
p.Arg438Cys
p.Phe565Ser
p.Ile573Val
p.Trp640Leu
p.Arg660Gln
p.Asp728His
p.Ile734Ala
p.Arg768Trp
p.Met784Arg
p.Arg795Gln
p.Pro858Ser
p.Leu954Pro
p.Ser1007Leu





















Q02846 GUC2D_HUMAN cone-rod dystrophy 6 p.Glu837Asp
p.Arg838Pro
p.Arg838Cys
p.Arg838His
p.Arg838Gly
p.Thr849Ala
p.Ile949Thr







Q02846 GUC2D_HUMAN choroidal dystrophy, central areolar, 1 p.Val933Ala