Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E737D
Back to variants list

SLC26A4

NM_000441.2:p.E737D

Associated Papers

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

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.

Rapp C et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Molecular and functional characterization of human pendrin and its allelic variants.

Dossena S et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011

The rocky road toward clinical genetic testing: insights into the physio-genetic basis of hearing loss.

Runge-Samuelson C et al.

Physiological Genomics, 2009

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Dai P et al.

Physiological Genomics, 2009

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Tropitzsch A et al.

Ear and Hearing, 0

34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_4
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."