Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.E87Q
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STIM1

NM_001382567.1:p.E87Q

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

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1

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

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

Luminal STIM1 Mutants that Cause Tubular Aggregate Myopathy Promote Autophagic Processes.

Sallinger M et al.

International Journal of Molecular Sciences, 2020

Sequential activation of STIM1 links Ca2+ with luminal domain unfolding.

Schober R et al.

Science Signaling, 2019

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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."