Varaico: Literature-Extracted Genetic Variants

Gene:RELA
Variant:p.R246*
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RELA

NM_021975.4:p.R246*

Associated Papers

A Case-Based Literature Review of RELA Associated Inflammatory Diseases.

Karaçayır N et al.

Journal of Clinical Immunology, 2026

Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity.

Moriya K et al.

The Journal of Experimental Medicine, 2023

Case report: Novel variants in RELA associated with familial Behcet's-like disease.

An JW et al.

Frontiers in Immunology, 2023

Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.

Lecerf K et al.

Rheumatology (oxford, England), 2022

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.

Kacar M et al.

Rheumatology (oxford, England), 2019

RELA haploinsufficiency in CD4 lymphoproliferative disease with autoimmune cytopenias.

Comrie WA et al.

The Journal of Allergy and Clinical Immunology, 2018

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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."