Varaico: Literature-Extracted Genetic Variants

Gene:CD3G
Variant:p.M1V
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CD3G

NM_000073.3:p.M1V

Associated Papers

Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens.

Walsh ZH et al.

Nature Biotechnology, 2025

The role of the different CD3γ domains in TCR expression and signaling.

Garcillán B et al.

Frontiers in Immunology, 2022

Complete Absence of CD3γ Protein Expression Is Responsible for Combined Immunodeficiency with Autoimmunity Rather than SCID.

Delmonte OM et al.

Journal of Clinical Immunology, 2021

Naturally Occurring Genetic Alterations in Proximal TCR Signaling and Implications for Cancer Immunotherapy.

Kent A et al.

Frontiers in Immunology, 2021

CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies.

Valori M et al.

Plos One, 2021

34874980 (PubMed )
Supplement: pone.0261002.s008.xlsx › Sheet1

A Novel CD3G Mutation in a Taiwanese Patient With Normal T Regulatory Function Presenting With the CVID Phenotype Free of Autoimmunity-Analysis of all Genotypes and Phenotypes.

Lee WI et al.

Frontiers in Immunology, 2019

Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.

Rowe JH et al.

Blood, 2018

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Differential biological role of CD3 chains revealed by human immunodeficiencies.

Recio MJ et al.

Journal of Immunology (baltimore, Md. : 1950), 2007

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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."