Varaico: Literature-Extracted Genetic Variants

Gene:STIM2
Variant:p.L194P
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STIM2

NM_020860.4:p.L194P

Associated Papers

The Orai Pore Opening Mechanism.

Tiffner A et al.

International Journal of Molecular Sciences, 2021

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 Calcium Entry Mediated by ORAI and STIM.

Nguyen NT et al.

Comprehensive Physiology, 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

Immunodeficiency due to defects in store-operated calcium entry.

Feske S

Annals of the New York Academy of Sciences, 2011

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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."