Varaico: Literature-Extracted Genetic Variants

Gene:MALT1
Variant:p.D184Y
Back to variants list

MALT1

NM_006785.4:p.D184Y

Associated Papers

Loss of MALT1 Function in a Patient With Combined Immunodeficiency: a Novel Pathogenic Variant and Immunological Insights.

Tian Z et al.

Journal of Clinical Immunology, 2025

Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis.

Turk A et al.

Scientific Reports, 2025

40592943 (PubMed )
Supplement: 41598_2025_4741_MOESM1_ESM.xlsx › Table_S2

The Genetic Architecture of Congenital Diarrhea and Enteropathy.

Gaibee Z et al.

The New England Journal of Medicine, 2025

40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table

The role of the CBM complex in allergic inflammation and disease.

DeVore SB et al.

The Journal of Allergy and Clinical Immunology, 2022

Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.

Sefer AP et al.

Journal of Clinical Immunology, 2022

Progressive B cell depletion in human MALT1 deficiency.

Sonoda M et al.

Clinical and Experimental Immunology, 2021

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.

Frizinsky S et al.

Journal of Clinical Immunology, 2019

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.

Charbit-Henrion F et al.

Journal of Pediatric Gastroenterology and Nutrition, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."