Varaico: Literature-Extracted Genetic Variants

Gene:CD3G
Variant:p.K69*
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CD3G

NM_000073.3:p.K69*

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Mota A et al.

Oncogene, 2022

35145232 (PubMed )
Supplement: 41388_2022_2221_MOESM3_ESM.xlsx › SEC-2

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

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

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

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."