Varaico: Literature-Extracted Genetic Variants

Gene:ZAP70
Variant:p.R192W
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ZAP70

NM_001079.4:p.R192W

Associated Papers

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Reeve MP et al.

Nature Genetics, 2026

CoDIAC: A comprehensive approach for interaction analysis reveals novel insights into SH2 domain function and regulation.

Kandoor A et al.

Biorxiv : the Preprint Server for Biology, 2025

39091881 (PubMed )
Supplement: media-5.xlsx › B.Mutation_classification

Mechanistic insights into the allosteric inactivation mechanism of ZAP-70 induced by the hot spot W165C mutation.

Hu MT et al.

Journal of Biomolecular Structure & Dynamics, 2024

Autoimmune hypothyroidism GWAS reveals independent autoimmune and thyroid-specific contributions and an inverse relation with cancer risk.

Reeve M et al.

Research Square, 2024

Decoding the deactivation mechanism of R192W mutation of ZAP-70 using molecular dynamics simulations and binding free energy calculations.

Zhang X et al.

Journal of Molecular Modeling, 2023

Combined immunodeficiency caused by pathogenic variants in the ZAP70 C-terminal SH2 domain.

Mongellaz C et al.

Frontiers in Immunology, 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

A disease-associated mutation that weakens ZAP70 autoinhibition enhances responses to weak and self-ligands.

Shen L et al.

Science Signaling, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review.

Sharifinejad N et al.

Frontiers in Immunology, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.

Shirkani A et al.

Immunological Investigations, 2017

A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.

Chan AY et al.

The Journal of Experimental Medicine, 2016

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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."