Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.R93W
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STIM1

NM_001382567.1:p.R93W

Associated Papers

Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.

Kamath ND et al.

Genetics, 2025

Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.

Kamath ND et al.

Biorxiv : the Preprint Server for Biology, 2025

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.

Silva-Rojas R et al.

Frontiers in Physiology, 2020

Store-Operated Calcium Entry Mediated by ORAI and STIM.

Nguyen NT et al.

Comprehensive Physiology, 2018

Store-operated CRAC channels regulate gene expression and proliferation in neural progenitor cells.

Somasundaram A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014

Impaired calcium entry into cells is associated with pathological signs of zinc deficiency.

O'Dell BL et al.

Advances in Nutrition (bethesda, Md.), 2013

R93W mutation in Orai1 causes impaired calcium influx in platelets.

Bergmeier W et al.

Blood, 2009

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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."