SWISSVAR
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1 protein found in SwissVar (12 variants)

with gene/protein name Q8TE73

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)
Q8TE73 DYH5_HUMAN ciliary dyskinesia, primary, 3 p.Arg1454Gln
p.Arg1716Leu
p.Ser2264Asn
p.Glu2347Lys
p.Arg2501Pro
p.Phe2843Ser
p.Ala2881Gly
p.Trp3409Ser
p.Gly3519Arg
p.Asp3605Asn
p.Ser3843Leu
p.Gly4205Val