Varaico: Literature-Extracted Genetic Variants

Gene:CD247
Variant:p.Q101*
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CD247

NM_198053.3:p.Q101*

Associated Papers

Rare variants and founder effect in the Beauce region of Quebec.

Gagnon M et al.

Communications Biology, 2025

40781540 (PubMed )
Supplement: 42003_2025_8630_MOESM2_ESM.xlsx › Beauce_variants

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

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function.

Briones AC et al.

The Journal of Allergy and Clinical Immunology, 2024

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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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."