Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A2
Variant:p.T288S
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SLC30A2

NM_001004434.3:p.T288S

Associated Papers

Impact of Zinc Transport Mechanisms on Embryonic and Brain Development.

Willekens J et al.

Nutrients, 2022

A common genetic variant in zinc transporter ZnT2 (Thr288Ser) is present in women with low milk volume and alters lysosome function and cell energetics.

Rivera OC et al.

American Journal of Physiology. Cell Physiology, 2020

Milk-derived miRNA profiles elucidate molecular pathways that underlie breast dysfunction in women with common genetic variants in SLC30A2.

Kelleher SL et al.

Scientific Reports, 2019

A genetic variant in SLC30A2 causes breast dysfunction during lactation by inducing ER stress, oxidative stress and epithelial barrier defects.

Lee S et al.

Scientific Reports, 2018

Exome Sequencing of SLC30A2 Identifies Novel Loss- and Gain-of-Function Variants Associated with Breast Cell Dysfunction.

Alam S et al.

Journal of Mammary Gland Biology and Neoplasia, 2015

Loss-of-function SLC30A2 mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants.

Kelleher SL et al.

Gut Microbes, 0

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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."