Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.E87A
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STIM1

NM_001382567.1:p.E87A

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

40737484 (PubMed )
Supplement: iyaf146_supplementary_data.zip › Supplementary_Table_2_GENETICS-2025-308212.xlsx › 1_DMS

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

39896620 (PubMed )
Supplement: media-2.xlsx › 1_DMS

Axonal Endoplasmic Reticulum Ca2+ Content Controls Release Probability in CNS Nerve Terminals.

de Juan-Sanz J et al.

Neuron, 2017

Diseases caused by mutations in ORAI1 and STIM1.

Lacruz RS et al.

Annals of the New York Academy of Sciences, 2015

STIM1 negatively regulates Ca²⁺ release from the sarcoplasmic reticulum in skeletal myotubes.

Lee KJ et al.

The Biochemical Journal, 2013

Molecular basis of activation of the arachidonate-regulated Ca2+ (ARC) channel, a store-independent Orai channel, by plasma membrane STIM1.

Thompson JL et al.

The Journal of Physiology, 2013

Structural and mechanistic insights into STIM1-mediated initiation of store-operated calcium entry.

Stathopulos PB et al.

Cell, 2008

Location and function of STIM1 in the activation of Ca2+ entry signals.

Hewavitharana T et al.

The Journal of Biological Chemistry, 2008

Voltage gating at the selectivity filter of the Ca2+ release-activated Ca2+ channel induced by mutation of the Orai1 protein.

Spassova MA et al.

The Journal of Biological Chemistry, 2008

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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."