Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.D77A
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STIM1

NM_001382567.1:p.D77A

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

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

A secretory pathway kinase regulates sarcoplasmic reticulum Ca2+ homeostasis and protects against heart failure.

Pollak AJ et al.

Elife, 2018

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

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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."