Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.R426L
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STIM1

NM_001382567.1:p.R426L

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_4_GENETICS-2025-308212.xlsx › cBioPortal_241001

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-6.xlsx › cBioPortal_241001

Molecular Mechanism Analysis of STIM1 Thermal Sensation.

Liu X et al.

Cells, 2023

Swing-out opening of stromal interaction molecule 1.

Horvath F et al.

Protein Science : a Publication of the Protein Society, 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

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

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

Fahrner M et al.

Nature Communications, 2018

Diseases caused by mutations in ORAI1 and STIM1.

Lacruz RS et al.

Annals of the New York Academy of Sciences, 2015

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

Ma G et al.

Nature Communications, 2015

26184105 (PubMed )
Supplement: ncomms8826-s1.pdf

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

STIM1 and SLC24A4 Are Critical for Enamel Maturation.

Wang S et al.

Journal of Dental Research, 2014

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

Zhou Y et al.

Nature Structural & Molecular Biology, 2013

23851458 (PubMed )
Supplement: NIHMS483645-supplement-1.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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