RecName: Full=Whirlin; AltName: Full=Autosomal recessive deafness type - Protein

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Novel pathogenic WHRN variant causing hearing loss in a moroccan family. [Mol Biol Rep. 2023]
Novel pathogenic WHRN variant causing hearing loss in a moroccan family.
AitRaise I, Amalou G, Redouane S, Charoute H, Snoussi K, Abdelghaffar H, Bonnet C, Petit C, Barakat A. Mol Biol Rep. 2023 Dec; 50(12):10663-10669. Epub 2023 Nov 4.
Folding and Misfolding of a PDZ Tandem Repeat. [J Mol Biol. 2021]
Folding and Misfolding of a PDZ Tandem Repeat.
Visconti L, Malagrinò F, Troilo F, Pagano L, Toto A, Gianni S. J Mol Biol. 2021 Apr 2; 433(7):166862. Epub 2021 Feb 1.
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. [Hear Res. 2019]
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.
Mathur PD, Yang J. Hear Res. 2019 Apr; 375:14-24. Epub 2019 Feb 22.

RefSeq genomic sequence
See the genomic reference sequence for the WHRN gene (NG_016700.1).
RefSeq protein isoforms
See 38 reference sequence protein isoforms for the WHRN gene.

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Q9P202 [Domain Mapping of Disease Mut...]
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Domain Mapping of Disease Mutations
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