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 |
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