Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.L248S
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STIM1

NM_001382567.1:p.L248S

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

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

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

Hirve N et al.

Cell Reports, 2018

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

Ma G et al.

Nature Communications, 2015

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."