Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.R477S
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SLC22A12

NM_144585.4:p.R477S

Associated Papers

Molecular mechanisms of urate transport by the native human URAT1 and its inhibition by anti-gout drugs.

Wu C et al.

Cell Discovery, 2025

Molecular basis of the urate transporter URAT1 inhibition by gout drugs.

Suo Y et al.

Biorxiv : the Preprint Server for Biology, 2024

Structural basis for the transport and substrate selection of human urate transporter 1.

He J et al.

Cell Reports, 2024

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.

Ichida K et al.

Clinical Genetics, 2008

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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."