Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.E86K
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STIM1

NM_001382567.1:p.E86K

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

Functional Analysis of Rare Genetic Variants in the Negative Regulator of Intracellular Calcium Signaling RCAS/SLC10A7.

Wannowius M et al.

Frontiers in Molecular Biosciences, 2021

34671644 (PubMed )
Supplement: Table1.XLSX › SLC10A7_v2_missense_variants
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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."