SWISSVAR
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1 protein found in SwissVar (45 variants)

with gene/protein name Q9NVV9

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)
Q9NVV9 THAP1_HUMAN dystonia 6, torsion p.Ser6Pro
p.Ser6Phe
p.Ala7Asp
p.Tyr8Cys
p.Gly9Cys
p.Asn12Lys
p.Arg13His
p.Lys16Glu
p.Asp17Gly
p.Ser21Thr
p.Ser21Cys
p.His23Pro
p.Lys24Glu
p.Pro26Arg
p.Pro26Leu
p.Arg29Gln
p.Arg29Pro
p.Pro30Arg
p.Leu32His
p.Ala39Thr
p.Cys54Phe
p.Glu56Gly
p.His57Asn
p.Thr59Ile
p.Leu72Arg
p.Asn75Ile
p.Ile80Val
p.Phe81Leu
p.Cys83Arg
p.Lys89Arg
p.Phe132Ser
p.Asn136Lys
p.Asn136Ser
p.Tyr137Cys
p.Met143Val
p.Ile149Thr
p.His150Pro
p.Ala166Thr
p.Arg169Gln
p.Cys170Arg
p.Glu174Gly
p.Leu177Pro
p.Leu180Ser
p.Gln187Lys
p.Asp192Asn