Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.D290N
Back to variants list

SLC26A4

NM_000441.2:p.D290N

Associated Papers

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

Bernardinelli E et al.

Molecular Medicine (cambridge, Mass.), 2025

40121402 (PubMed )
Supplement: 10020_2025_1159_MOESM2_ESM.docx

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

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Zhang D et al.

Annals of Human Genetics, 2022

35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData

Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations.

Rajalakshmi K et al.

Avicenna Journal of Medical Biotechnology, 0

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."