Varaico: Literature-Extracted Genetic Variants

Gene:PRKCD
Variant:p.R614W
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PRKCD

NM_006254.4:p.R614W

Associated Papers

Phenotypic Variability in PRKCD: a Review of the Literature.

Jefferson L 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

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

Neehus AL et al.

The Journal of Experimental Medicine, 2021

Attenuation of PKCδ enhances metabolic activity and promotes expansion of blood progenitors.

Rao TN et al.

The Embo Journal, 2018

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

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis.

Salzer E et al.

Journal of Clinical Immunology, 2016

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.

Kuehn HS et al.

Blood, 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."