Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.I456T
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STIM1

NM_001382567.1:p.I456T

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_4_GENETICS-2025-308212.xlsx › Gnomad_240924

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-6.xlsx › Gnomad_240924

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.

Jafarpour S et al.

Journal of Neurology, 2022

p53 mitigates the effects of oncogenic HRAS in urothelial cells via the repression of MCOLN1.

Jung J et al.

Iscience, 2021

34222845 (PubMed )
Supplement: mmc6.xlsx › Supplementary_Table_5
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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."