SWISSVAR
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1 protein found in SwissVar (23 variants)

with gene/protein name P39019

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)
P39019 RS19_HUMAN diamond-blackfan anemia 1 p.Val15Phe
p.Ala17Pro
p.Leu18Pro
p.Leu18Arg
p.Phe21Ser
p.Pro47Leu
p.Trp52Cys
p.Trp52Arg
p.Thr55Met
p.Arg56Gln
p.Ala57Pro
p.Ser59Phe
p.Ala61Glu
p.Arg62Gln
p.Arg62Trp
p.Leu64Pro
p.Thr76Pro
p.Arg101His
p.Gly120Arg
p.Gly127Glu
p.Leu131Pro
p.Leu131Arg
p.Ala135Thr