SWISSVAR
Home  |  Contact
This service is no longer maintained and will be discontinued as of UniProtKB release 2020_04 of August 12th, 2020. Much of the data in SwissVar is available via the UniProt Knowledgebase. Please don't hesitate to contact the UniProt helpdesk in case of questions.

1 protein found in SwissVar (44 variants)

with gene/protein name Q92736

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)
Q92736 RYR2_HUMAN arrhythmogenic right ventricular dysplasia, familial, 2 p.Arg176Gln
p.Leu433Pro
p.Asn2386Ile
p.Thr2504Met




Q92736 RYR2_HUMAN ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy p.Pro164Ser
p.Arg176Gln
p.Arg414Leu
p.Ile419Phe
p.Arg420Trp
p.Leu433Pro
p.Pro466Ala
p.Ser2246Leu
p.Val2306Ile
p.Glu2311Asp
p.Pro2328Ser
p.Asn2386Ile
p.Ala2387Pro
p.Tyr2392Cys
p.Ala2403Thr
p.Arg2474Ser
p.Thr2504Met
p.Leu3778Phe
p.Cys3800Phe
p.Gly3946Ser
p.Asn4097Ser
p.Asn4104Lys
p.Ser4124Thr
p.Glu4146Lys
p.Thr4158Pro
p.Gln4159Pro
p.Gln4201Arg
p.Arg4497Cys
p.Phe4499Cys
p.Met4504Ile
p.Ala4510Thr
p.Ala4556Thr
p.Ala4607Pro
p.Val4653Phe
p.Gly4671Arg
p.Val4771Ile
p.Ile4848Val
p.Ala4860Gly
p.Ile4867Met
p.Val4880Ala
p.Asn4895Asp
p.Pro4902Leu
p.Glu4950Lys
p.Arg4959Gln