SWISSVAR
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1 protein found in SwissVar (22 variants)

with gene/protein name Q9Y6K9

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)
Q9Y6K9 NEMO_HUMAN ectodermal dysplasia and immunodeficiency 1 p.Leu153Arg
p.Arg175Pro
p.Leu227Pro
p.Ala288Gly
p.Asp311Asn
p.Asp406Val
p.Cys417Phe
p.Cys417Arg








Q9Y6K9 NEMO_HUMAN ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema
Q9Y6K9 NEMO_HUMAN immunodeficiency, nemo-related, without anhidrotic ectodermal dysplasia p.Cys417Tyr

Q9Y6K9 NEMO_HUMAN immunodeficiency 33 p.Glu315Ala
p.Arg319Gln


Q9Y6K9 NEMO_HUMAN recurrent isolated invasive pneumococcal disease 2 p.Arg173Gly

Q9Y6K9 NEMO_HUMAN incontinentia pigmenti p.Glu57Lys
p.Arg123Trp
p.Leu170Pro
p.Arg173Gln
p.Gln183His
p.Ala314Pro
p.Leu322Pro
p.Ala323Pro
p.Met407Val
p.His413Tyr