Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.E249D
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STIM1

NM_001382567.1:p.E249D

Associated Papers

Genital Crohn's disease in pediatrics and genetic associations.

Chang E et al.

Jpgn Reports, 2025

The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis.

Burgos M et al.

Journal of Cell Science, 2021

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."