Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.L251S
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STIM1

NM_001382567.1:p.L251S

Associated Papers

Swing-out opening of stromal interaction molecule 1.

Horvath F et al.

Protein Science : a Publication of the Protein Society, 2023

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

Mapping interactions between the CRAC activation domain and CC1 regulating the activity of the ER Ca2+ sensor STIM1.

Shrestha N et al.

The Journal of Biological Chemistry, 2022

Orai1 Boosts SK3 Channel Activation.

Tiffner A et al.

Cancers, 2021

Defects in the STIM1 SOARα2 domain affect multiple steps in the CRAC channel activation cascade.

Höglinger C et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Interhelical interactions within the STIM1 CC1 domain modulate CRAC channel activation.

Rathner P et al.

Nature Chemical Biology, 2021

2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2020

Cross-talk between N-terminal and C-terminal domains in stromal interaction molecule 2 (STIM2) determines enhanced STIM2 sensitivity.

Emrich SM et al.

The Journal of Biological Chemistry, 2019

STIM1 activation of Orai1.

Lunz V et al.

Cell Calcium, 2019

CRAC channel-based optogenetics.

Nguyen NT et al.

Cell Calcium, 2018

The 2β Splice Variation Alters the Structure and Function of the Stromal Interaction Molecule Coiled-Coil Domains.

Chung S et al.

International Journal of Molecular Sciences, 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

Communication between N terminus and loop2 tunes Orai activation.

Fahrner M et al.

The Journal of Biological Chemistry, 2018

Authentic CRAC channel activity requires STIM1 and the conserved portion of the Orai N terminus.

Derler I et al.

The Journal of Biological Chemistry, 2018

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

Hirve N et al.

Cell Reports, 2018

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.

Borsani O et al.

Frontiers in Neurology, 2018

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

Korzeniowski MK et al.

Journal of Cell Science, 2017

Calcium Dyshomeostasis in Tubular Aggregate Myopathy.

Lee JM et al.

International Journal of Molecular Sciences, 2016

The STIM1: Orai Interaction.

Frischauf I et al.

Advances in Experimental Medicine and Biology, 2016

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

Ma G et al.

Nature Communications, 2015

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

A coiled-coil clamp controls both conformation and clustering of stromal interaction molecule 1 (STIM1).

Fahrner M et al.

The Journal of Biological Chemistry, 2014

The extended transmembrane Orai1 N-terminal (ETON) region combines binding interface and gate for Orai1 activation by STIM1.

Derler I et al.

The Journal of Biological Chemistry, 2013

Initial activation of STIM1, the regulator of store-operated calcium entry.

Zhou Y et al.

Nature Structural & Molecular Biology, 2013

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

Muik M et al.

The Embo Journal, 2011

The STIM1/Orai signaling machinery.

Fahrner M et al.

Channels (austin, Tex.), 0

STIM1 activation is regulated by a 14 amino acid sequence adjacent to the CRAC activation domain.

Korzeniowski MK et al.

Aims Biophysics, 0

CRAC channel opening is determined by a series of Orai1 gating checkpoints in the transmembrane and cytosolic regions.

Tiffner A et al.

The Journal of Biological Chemistry, 0

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