SWISSVAR
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1 protein found in SwissVar (12 variants)

with gene/protein name Q9Y3Z3

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)
Q9Y3Z3 SAMH1_HUMAN aicardi-goutieres syndrome 5 p.His123Pro
p.Arg143His
p.Arg143Cys
p.Arg145Gln
p.His167Tyr
p.Ile201Asn
p.Gly209Ser
p.Met254Val
p.Arg290His
p.Leu369Ser
p.Met385Val
p.Ile448Thr












Q9Y3Z3 SAMH1_HUMAN chilblain lupus 2 p.Ile201Asn