Varaico: Literature-Extracted Genetic Variants

Gene:ZAP70
Variant:p.R360P
Back to variants list

ZAP70

NM_001079.4:p.R360P

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

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

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM

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

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

Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency.

Gavino C et al.

The Journal of Allergy and Clinical Immunology, 2017

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

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."