Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.D76A
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STIM1

NM_001382567.1:p.D76A

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

Essential role of N-terminal SAM regions in STIM1 multimerization and function.

Sallinger M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

An apical Phe-His pair defines the Orai1-coupling site and its occlusion within STIM1.

Zhou Y et al.

Nature Communications, 2023

The SOAR of STIM1 interacts with plasma membrane lipids to form ER-PM contact sites.

Cohen HA et al.

Cell Reports, 2023

The mammalian trafficking chaperone protein UNC93B1 maintains the ER calcium sensor STIM1 in a dimeric state primed for translocation to the ER cortex.

Wang WA et al.

The Journal of Biological Chemistry, 2022

The Role of Lipids in CRAC Channel Function.

Maltan L et al.

Biomolecules, 2022

Bidirectional regulation of calcium release-activated calcium (CRAC) channel by SARAF.

Zomot E et al.

The Journal of Cell Biology, 2021

Phosphorylation of STIM1 at ERK/CDK sites is dispensable for cell migration and ER partitioning in mitosis.

Hammad AS et al.

Cell Calcium, 2021

More Than Just Simple Interaction between STIM and Orai Proteins: CRAC Channel Function Enabled by a Network of Interactions with Regulatory Proteins.

Berlansky S et al.

International Journal of Molecular Sciences, 2021

Proteins Interacting with STIM1 and Store-Operated Ca2+ Entry.

Wang WA et al.

Progress in Molecular and Subcellular Biology, 2021

Alterations of the Endoplasmic Reticulum (ER) Calcium Signaling Molecular Components in Alzheimer's Disease.

Chami M et al.

Cells, 2020

Store-Operated Calcium Channels: From Function to Structure and Back Again.

Lewis RS

Cold Spring Harbor Perspectives in Biology, 2020

TRIC-A shapes oscillatory Ca2+ signals by interaction with STIM1/Orai1 complexes.

Shrestha N et al.

Plos Biology, 2020

Store-Operated Calcium Entry Mediated by ORAI and STIM.

Nguyen NT et al.

Comprehensive Physiology, 2018

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

Fahrner M et al.

Nature Communications, 2018

29483506 (PubMed )
Supplement: 41467_2018_3062_MOESM2_ESM.pdf

Coiled-Coil Formation Conveys a STIM1 Signal from ER Lumen to Cytoplasm.

Hirve N et al.

Cell Reports, 2018

UNC93B1 interacts with the calcium sensor STIM1 for efficient antigen cross-presentation in dendritic cells.

Maschalidi S et al.

Nature Communications, 2017

Calmodulin dissociates the STIM1-Orai1 complex and STIM1 oligomers.

Li X et al.

Nature Communications, 2017

Molecular anatomy of the early events in STIM1 activation - oligomerization or conformational change?

Korzeniowski MK et al.

Journal of Cell Science, 2017

STIM1 Ca2+ Sensor Control of L-type Ca2+-Channel-Dependent Dendritic Spine Structural Plasticity and Nuclear Signaling.

Dittmer PJ et al.

Cell Reports, 2017

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

de Juan-Sanz J et al.

Neuron, 2017

Calcium Dyshomeostasis in Tubular Aggregate Myopathy.

Lee JM et al.

International Journal of Molecular Sciences, 2016

Molecular mechanisms underlying inhibition of STIM1-Orai1-mediated Ca2+ entry induced by 2-aminoethoxydiphenyl borate.

Wei M et al.

Pflugers Archiv : European Journal of Physiology, 2016

Dynamic interaction of SARAF with STIM1 and Orai1 to modulate store-operated calcium entry.

Albarran L et al.

Scientific Reports, 2016

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.

Parry DA et al.

The Journal of Allergy and Clinical Immunology, 2016

Diseases caused by mutations in ORAI1 and STIM1.

Lacruz RS et al.

Annals of the New York Academy of Sciences, 2015

Proteomic mapping of ER-PM junctions identifies STIMATE as a regulator of Ca²⁺ influx.

Jing J et al.

Nature Cell Biology, 2015

Inside-out Ca(2+) signalling prompted by STIM1 conformational switch.

Ma G et al.

Nature Communications, 2015

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

Nesin V et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Ca2+ influx through store-operated Ca2+ channels reduces Alzheimer disease β-amyloid peptide secretion.

Zeiger W et al.

The Journal of Biological Chemistry, 2013

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

Lee KJ et al.

The Biochemical Journal, 2013

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