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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STIM1

Variant:p.E249D

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STIM1

NM_001382567.1:p.E249D

hg38:chr11:4070159 G>T

Associated Papers

Genital Crohn's disease in pediatrics and genetic associations.

Chang E et al.

Jpgn Reports, 2025

40814578 (PubMed )

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

Burgos M et al.

Journal of Cell Science, 2021

33468626 (PubMed )

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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."