Varaico: Literature-Extracted Genetic Variants

Gene:PRKCD
Variant:p.G510S
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PRKCD

NM_006254.4:p.G510S

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Missense variants in PRKCD: elucidating their potential association with breast cancer.

Zafar S et al.

Breast Cancer Research : Bcr, 2025

40722182 (PubMed )
Supplement: 13058_2025_2090_MOESM1_ESM.pdf

Primary immunodeficiency as a cause of immune-mediated kidney diseases.

Zhang C et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024

Mendelian Causes of Autoimmunity: the Lupus Phenotype.

Tusseau M et al.

Journal of Clinical Immunology, 2024

Phenotypic Variability in PRKCD: a Review of the Literature.

Jefferson L et al.

Journal of Clinical Immunology, 2023

mTOR Activation Underlies Enhanced B Cell Proliferation and Autoimmunity in PrkcdG510S/G510S Mice.

Moreews M et al.

Journal of Immunology (baltimore, Md. : 1950), 2023

Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings.

Roderick MR et al.

Journal of Clinical Immunology, 2023

Dynamic phosphatase-recruitment controls B-cell selection and oncogenic signaling.

Lee J et al.

Biorxiv : the Preprint Server for Biology, 2023

Protein Kinase C-Delta Defect in Autoimmune Lymphoproliferative Syndrome-Like Disease: First Case from the National Iranian Registry and Review of the Literature.

Sharifinejad N et al.

Immunological Investigations, 2022

The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Magistri M et al.

Cancer Research Communications, 2021

35528192 (PubMed )
Supplement: crc-21-0022-s05.xlsx › Fig3_pathway_variants

Impaired respiratory burst contributes to infections in PKCδ-deficient patients.

Neehus AL et al.

The Journal of Experimental Medicine, 2021

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed

Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ.

Lei L et al.

Pediatric Rheumatology Online Journal, 2018

De novo mutations implicate novel genes in systemic lupus erythematosus.

Pullabhatla V et al.

Human Molecular Genetics, 2018

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis.

Salzer E et al.

Journal of Clinical Immunology, 2016

Impaired microbial killing by neutrophils from patients with protein kinase C delta deficiency.

Szilagyi K et al.

The Journal of Allergy and Clinical Immunology, 2015

Immunogenetics of systemic lupus erythematosus: A comprehensive review.

Ghodke-Puranik Y et al.

Journal of Autoimmunity, 2015

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

Belot A et al.

Arthritis and Rheumatism, 2013

Editorial: entering the age of whole-exome sequencing in rheumatic diseases: novel insights into disease pathogenicity.

Okada Y et al.

Arthritis and Rheumatism, 2013

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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."