Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.C307W
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SLC26A3

NM_000111.3:p.C307W

Associated Papers

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Elevation in Cell Cycle and Protein Metabolism Gene Transcription in Inactive Colonic Tissue From Icelandic Patients With Ulcerative Colitis.

Vinayaga-Pavan M et al.

Inflammatory Bowel Diseases, 2019

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

Wedenoja S et al.

Scientific Reports, 2017

Update on SLC26A3 mutations in congenital chloride diarrhea.

Wedenoja S et al.

Human Mutation, 2011

Significance of molecular testing for congenital chloride diarrhea.

Lechner S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2011

SLC26A3 mutations in congenital chloride diarrhea.

Mäkelä S et al.

Human Mutation, 2002

Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.

Moseley RH et al.

The American Journal of Physiology, 1999

Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene.

Hemminki A et al.

Oncogene, 1998

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

Höglund P et al.

Human Mutation, 1998

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.

Höglund P et al.

Nature Genetics, 1996

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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."