Varaico: Literature-Extracted Genetic Variants

Gene:ERVW-1
Variant:p.G98R
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ERVW-1

NM_001130925.2:p.G98R

Associated Papers

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

Lian J et al.

The Journal of Allergy and Clinical Immunology, 2018

Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function.

Concepcion AR et al.

The Journal of Clinical Investigation, 2016

Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist.

Xiang Z et al.

Biochemistry, 2010

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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."