Varaico: Literature-Extracted Genetic Variants

Gene:IL36A
Variant:p.Q12R
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IL36A

NM_014440.3:p.Q12R

Associated Papers

A Functional Polymorphism in IL-36β Modulates Macrophage Antifungal Effector Functions and Increases Susceptibility to Invasive Pulmonary Aspergillosis.

Gonçalves SM et al.

The Journal of Infectious Diseases, 2025

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Comparison of the Inflammatory Circuits in Psoriasis Vulgaris, Non‒Pustular Palmoplantar Psoriasis, and Palmoplantar Pustular Psoriasis.

Wang CQ et al.

The Journal of Investigative Dermatology, 2023

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

van Deuren RC et al.

Genome Medicine, 2021

34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S3

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ et al.

Plos Genetics, 2015

25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs
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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."