Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.D76N
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STIM1

NM_001382567.1:p.D76N

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

Stromal interaction molecule 1 (STIM1) is involved in the regulation of mitochondrial shape and bioenergetics and plays a role in oxidative stress.

Henke N et al.

The Journal of Biological Chemistry, 2012

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