Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.I308T
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SERPINA3

NM_001085.5:p.I308T

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.

Deng Z et al.

Nature Communications, 2023

37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original

Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G.

Liu Y et al.

Journal of Human Genetics, 2023

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

Polymorphic SERPINA3-R124C reduces pathogenesis of its wild type by shortening the lifetime of oligomeric Aβ.

Akbor MM et al.

Bioscience, Biotechnology, and Biochemistry, 2021

Polymorphic SERPINA3 prolongs oligomeric state of amyloid beta.

Akbor MM et al.

Plos One, 2021

An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese.

Meng G et al.

Human Mutation, 2000

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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."