Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A8
Variant:p.R165C
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SLC30A8

NM_173851.3:p.R165C

Associated Papers

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

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.

Bauer R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40832409 (PubMed )
Supplement: media-1.xlsx › S4_-_Variants_Identified

Unraveling the potential effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on the Protein structure and function of the human SLC30A8 gene on type 2 diabetes and colorectal cancer: An In silico approach.

Uddin MM et al.

Heliyon, 2024

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Flannick J et al.

Nature, 2019

31118516 (PubMed )
Supplement: 41586_2019_1231_MOESM1_ESM.pdf
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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."