Varaico: Literature-Extracted Genetic Variants

Gene:ZAP70
Variant:p.A507V
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ZAP70

NM_001079.4:p.A507V

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Fyn

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Fyn

A rare disease: ZAP70 deficiency.

Erdogan S et al.

Northern Clinics of Istanbul, 2024

Novel Compound Heterozygous ZAP70 R37G A507T Mutations in Infant with Severe Immunodeficiency.

Benavides N et al.

Journal of Clinical Immunology, 2023

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

Sharifinejad N et al.

Frontiers in Immunology, 2020

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

An infant with ZAP-70 deficiency with disseminated mycobacterial disease.

Esenboga S et al.

Journal of Clinical Immunology, 2016

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.

Hauck F et al.

Clinical Immunology (orlando, Fla.), 2015

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.

Karaca E et al.

Gene, 2013

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.

Turul T et al.

European Journal of Pediatrics, 2009

Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70.

Elder ME et al.

Journal of Immunology (baltimore, Md. : 1950), 2001

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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."