Varaico: Literature-Extracted Genetic Variants

Gene:AP1S3
Variant:p.I83T
Back to variants list

AP1S3

NM_001039569.2:p.I83T

Associated Papers

Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Jain A et al.

Journal, Genetic Engineering & Biotechnology, 2021

34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.

Setta-Kaffetzi N et al.

American Journal of Human Genetics, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."