Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.L707P
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SLC4A1

NM_000342.4:p.L707P

Associated Papers

Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.

Reithmeier RA et al.

Biochimica Et Biophysica Acta, 2016

Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Yenchitsomanus PT et al.

Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

Taylor JP et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.

Quilty JA et al.

Traffic (copenhagen, Denmark), 2000

Functional consequences of mutations in the transmembrane domain and the carboxy-terminus of the murine AE1 anion exchanger.

Chernova MN et al.

Biochimica Et Biophysica Acta, 1997

Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.

Jarolim P et al.

Blood, 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."