Varaico: Literature-Extracted Genetic Variants

Gene:BTNL2
Variant:p.K196E
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BTNL2

NM_001304561.2:p.K196E

Associated Papers

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Genetic Factors in Familial Manifestation of Primary Mediastinal Large B-Cell Lymphoma over Two Generations.

Juskevicius D et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

Exome variants associated with asthma and allergy.

Wjst M

Scientific Reports, 2022

36470944 (PubMed )
Supplement: 41598_2022_24960_MOESM1_ESM.pdf

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD.

Hu S et al.

Gut, 2021

Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.

Li X et al.

Medicine, 2020

32000458 (PubMed )
Supplement: medi-99-e19076-s002.xlsx › Supp_Table2._somatic_SNVs

Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

Moon CM et al.

Inflammatory Bowel Diseases, 2018

29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf

Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.

Debiec H et al.

Journal of the American Society of Nephrology : Jasn, 2018

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ et al.

Plos Genetics, 2015

25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K et al.

Gut, 2013

22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Anderson CA et al.

Nature Genetics, 2011

21297633 (PubMed )
Supplement: NIHMS265993-supplement-1.pdf

New genetic associations detected in a host response study to hepatitis B vaccine.

Davila S et al.

Genes and Immunity, 2010

Confirmation of the novel association at the BTNL2 locus with ulcerative colitis.

Pathan S et al.

Tissue Antigens, 2009

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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."