Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.N82N
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SLC22A12

NM_144585.4:p.N82N

Associated Papers

Red blood cell urate levels are linked to hemolysis in vitro and post-transfusion as a function of donor sex, population and genetic polymorphisms in SLC2A9 and ABCG2.

Key AM et al.

Transfusion, 2025

Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout.

Pavelcova K et al.

Journal of Clinical Medicine, 2020

Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.

Zhou Z et al.

Molecular Genetics & Genomic Medicine, 2019

31131560 (PubMed )
Supplement: MGG3-7-e00722-s002.xlsx › sheet_2

Genome sequencing analysis of blood cells identifies germline haplotypes strongly associated with drug resistance in osteosarcoma patients.

Bhuvaneshwar K et al.

Bmc Cancer, 2019

30991985 (PubMed )
Supplement: 12885_2019_5474_MOESM4_ESM.xlsx › 2016NovDec12_2016Dec12_85_15_GL

Discovery of URAT1 SNPs and association between serum uric acid levels and URAT1.

Cho SK et al.

Bmj Open, 2015

Absence of the SLC22A12 gene mutation in Turkish population with primary gout disease.

Yakut S et al.

Rheumatology International, 2013

Profiling of drug-metabolizing enzymes/transporters in CD33+ acute myeloid leukemia patients treated with Gemtuzumab-Ozogamicin and Fludarabine, Cytarabine and Idarubicin.

Iacobucci I et al.

The Pharmacogenomics Journal, 2013

Multiple single nucleotide polymorphisms in the human urate transporter 1 (hURAT1) gene are associated with hyperuricaemia in Han Chinese.

Li C et al.

Journal of Medical Genetics, 2010

Analyses of coding region polymorphisms in apical and basolateral human organic anion transporter (OAT) genes [OAT1 (NKT), OAT2, OAT3, OAT4, URAT (RST)].

Xu G et al.

Kidney International, 2005

A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.

Iwai N et al.

Kidney International, 2004

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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."