Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.L423S
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STIM1

NM_001382567.1:p.L423S

Associated Papers

A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.

Gamage TH et al.

Science Signaling, 2023

STIM1 activation of Orai1.

Lunz V et al.

Cell Calcium, 2019

CRAC channel-based optogenetics.

Nguyen NT et al.

Cell Calcium, 2018

Store-Operated Calcium Entry Mediated by ORAI and STIM.

Nguyen NT et al.

Comprehensive Physiology, 2018

Phosphorylation-mediated structural changes within the SOAR domain of stromal interaction molecule 1 enable specific activation of distinct Orai channels.

Thompson JL et al.

The Journal of Biological Chemistry, 2018

A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state.

Fahrner M et al.

Nature Communications, 2018

The STIM1: Orai Interaction.

Frischauf I et al.

Advances in Experimental Medicine and Biology, 2016

Missense mutation in immunodeficient patients shows the multifunctional roles of coiled-coil domain 3 (CC3) in STIM1 activation.

Maus M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Structural and functional mechanisms of CRAC channel regulation.

Shim AH et al.

Journal of Molecular Biology, 2015

STIM1/Orai1 coiled-coil interplay in the regulation of store-operated calcium entry.

Stathopulos PB et al.

Nature Communications, 2013

24351972 (PubMed )
Supplement: ncomms3963-s1.pdf

STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation.

Muik M et al.

The Embo Journal, 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."