Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y214C
Back to variants list

SLC26A4

NM_000441.2:p.Y214C

Associated Papers

Functional Studies of Deafness-Associated Pendrin and Prestin Variants.

Takahashi S et al.

International Journal of Molecular Sciences, 2024

Functional studies of deafness-associated pendrin and prestin variants.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Liu Q et al.

Nature Communications, 2023

37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › Sheet1

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.

Wasano K et al.

Human Mutation, 2020

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.

Nishio SY et al.

Genetic Testing and Molecular Biomarkers, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."