Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A8
Variant:p.R325W
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SLC30A8

NM_173851.3:p.R325W

Associated Papers

Molecular Genetics of β-Cell Compensation in Gestational Diabetes Mellitus: Insights from CDKAL1, SLC30A8 and HHEX.

Hryniewicka J et al.

International Journal of Molecular Sciences, 2026

Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function.

Lamarche LB et al.

Diabetologia, 2025

41020949 (PubMed )
Supplement: 125_2025_6530_MOESM1_ESM.pdf

Loss-of-function variant of SLC30A8 rs13266634 (C > T) protects against type 2 diabetes by stabilizing ZnT8: Insights from epidemiological and computational analyses.

Barman N et al.

Journal, Genetic Engineering & Biotechnology, 2025

The Association between PTPN22 SNPs and susceptibility to type 1 diabetes: An updated meta-analysis.

Su Y et al.

Plos One, 2025

40238817 (PubMed )
Supplement: pone.0321624.s007.xls › Literature_Search

Pharmacogenomics and genetic ancestry in Colombia: a study on all variant drug annotations of PharmGKB.

Acosta-Monterrosa AA et al.

Frontiers in Pharmacology, 2025

40949159 (PubMed )
Supplement: Table1.xlsx › Studies

Identification of genetic risk variants for Type-2 Diabetes mellitus in Pakistani Pashtun population: A case-control association study.

Jan A et al.

Pakistan Journal of Medical Sciences, 2024

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST4_GWAS_Loci_BBJ_NCGG_ToMMo

Development of a live cell assay for the zinc transporter ZnT8.

Azzollini L et al.

Slas Discovery : Advancing Life Sciences R & D, 2024

Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function.

Hu M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Mechanisms and Physiological Roles of Polymorphisms in Gestational Diabetes Mellitus.

Suthon S et al.

International Journal of Molecular Sciences, 2024

Genetic architecture and biology of youth-onset type 2 diabetes.

Kwak SH et al.

Nature Metabolism, 2024

38278947 (PubMed )
Supplement: 42255_2023_970_MOESM3_ESM.xlsx › Supp_Table2

Putative protective genomic variation in the Lithuanian population.

Žukauskaitė G et al.

Genetics and Molecular Biology, 2024

Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function.

Hu M et al.

Biorxiv : the Preprint Server for Biology, 2023

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.

Choi J et al.

Science Advances, 2023

37556544 (PubMed )
Supplement: sciadv.adg6319_tables_s5_s6_s9_and_s11.zip › Table_S11.xlsx › Table_S11

Probing the diabetes and colorectal cancer relationship using gene - environment interaction analyses.

Dimou N et al.

British Journal of Cancer, 2023

Insights from rare variants into the genetic architecture and biology of youth-onset type 2 diabetes.

Kwak SH et al.

Research Square, 2023

Comprehensive Diagnostic Criteria for MELAS Syndrome; a Case Study Involving an Elderly Patient With MT-TWm.5541C>T Mutation.

Wu G et al.

The Neurologist, 2023

Effects of a genetic variant rs13266634 in the zinc transporter 8 gene (SLC30A8) on insulin and lipid levels before and after a high-fat mixed macronutrient tolerance test in U.S. adults.

Yang Z et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2023

ZnT8 Loss of Function Mutation Increases Resistance of Human Embryonic Stem Cell-Derived Beta Cells to Apoptosis in Low Zinc Condition.

Sui L et al.

Cells, 2023

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

36653562 (PubMed )
Supplement: 41586_2022_5473_MOESM4_ESM.xlsx › Supplementary_Table_8

The longitudinal loss of islet autoantibody responses from diagnosis of type 1 diabetes occurs progressively over follow-up and is determined by low autoantibody titres, early-onset, and genetic variants.

Williams CL et al.

Clinical and Experimental Immunology, 2022

Variants of SLC2A10 may be Linked to Poor Response to Metformin.

Paz-Pacheco E et al.

Journal of the Endocrine Society, 2022

Impact of Zinc Transport Mechanisms on Embryonic and Brain Development.

Willekens J et al.

Nutrients, 2022

Zinc transporters ZIPT-2.4 and ZIPT-15 are required for normal C. elegans fecundity.

Sue AC et al.

Journal of Assisted Reproduction and Genetics, 2022

Type 2 Diabetes-Related Variants Influence the Risk of Developing Prostate Cancer: A Population-Based Case-Control Study and Meta-Analysis.

Sánchez-Maldonado JM et al.

Cancers, 2022

The common rs13266634 C > T variant in SLC30A8 contributes to the heterogeneity of phenotype and clinical features of both type 1 and type 2 diabetic subtypes.

Xu K et al.

Acta Diabetologica, 2022

Lack of ZnT8 protects pancreatic islets from hypoxia- and cytokine-induced cell death.

Karsai M et al.

The Journal of Endocrinology, 2022

Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.

Bartolomé A

International Journal of Molecular Sciences, 2022

Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes.

Chen G et al.

Plos One, 2022

Risk of type 2 diabetes mellitus and cardiovascular complications in KCNJ11, HHEX and SLC30A8 genetic polymorphisms carriers: A case-control study.

Aka TD et al.

Heliyon, 2021

Genetic Association of Solute Carrier Transporter Gene Variants with Metformin Response.

Abrahams-October Z et al.

Balkan Journal of Medical Genetics : Bjmg, 2021

Pancreatic β cell-selective zinc transporter 8 insufficiency accelerates diabetes associated with islet amyloidosis.

Xu J et al.

Jci Insight, 2021

SLC30A8 gene polymorphism rs13266634 associated with increased risk for developing type 2 diabetes mellitus in Jordanian population.

Mashal S et al.

Gene, 2021

Diabetes and Genetics: A Relationship Between Genetic Risk Alleles, Clinical Phenotypes and Therapeutic Approaches.

Sayed S et al.

Advances in Experimental Medicine and Biology, 2021

Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.

Goto K et al.

Plos One, 2021

Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.

Jan A et al.

Journal of Diabetes Research, 2021

34258292 (PubMed )
Supplement: 6669731.f1.zip › 6669731.f1 › 6669731.f1.pdf

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM17_ESM.xlsx › S10

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.

Vujkovic M et al.

Nature Genetics, 2020

32541925 (PubMed )
Supplement: NIHMS1589535-supplement-1589535_Supp_Tab1-26.xlsx › T14

Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics.

Krentz NAJ et al.

Nature Reviews. Endocrinology, 2020

C-Terminal Domain of the Human Zinc Transporter hZnT8 Is Structurally Indistinguishable from Its Disease Risk Variant (R325W).

Ullah R et al.

International Journal of Molecular Sciences, 2020

Insights into the structure-function relationship of both wild and mutant zinc transporter ZnT8 in human: a computational structural biology approach.

Gupta MK et al.

Journal of Biomolecular Structure & Dynamics, 2020

Structure/Function Analysis of human ZnT8 (SLC30A8): A Diabetes Risk Factor and Zinc Transporter.

Daniels MJ et al.

Current Research in Structural Biology, 2020

ZnT8 Haploinsufficiency Impacts MIN6 Cell Zinc Content and β-Cell Phenotype via ZIP-ZnT8 Coregulation.

Lawson R et al.

International Journal of Molecular Sciences, 2019

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion.

Dwivedi OP et al.

Nature Genetics, 2019

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

What Have Slow Progressors Taught Us About T1D-Mind the Gap!

Gillespie KM et al.

Current Diabetes Reports, 2019

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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."