Varaico: Literature-Extracted Genetic Variants

Gene:LACC1
Variant:p.I254V
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LACC1

NM_153218.4:p.I254V

Associated Papers

A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis.

Alblooshi H et al.

Human Genomics, 2025

Crohn's Disease-associated variant in laccase domain containing 1 (LACC1) modulates T cell gene expression, metabolism and T cell function.

Li Y et al.

Nature Communications, 2025

40089498 (PubMed )
Supplement: 41467_2025_57744_MOESM6_ESM.pdf

Recent advances in enzyme-free and enzyme-mediated single-nucleotide variation assay in vitro.

Xiong E et al.

National Science Review, 2024

[Monogenic variants in Laccase domain-containing 1 (LACC1) as the cause of juvenile arthritis].

Knieper AM et al.

Zeitschrift Fur Rheumatologie, 2024

Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review.

Wu Y et al.

Molecular Genetics & Genomic Medicine, 2023

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.

Liu Z et al.

Nature Genetics, 2023

Identification of shared loci associated with both Crohn's disease and leprosy in East Asians.

Jung S et al.

Human Molecular Genetics, 2022

LACC1 bridges NOS2 and polyamine metabolism in inflammatory macrophages.

Wei Z et al.

Nature, 2022

Genome-wide association study of leprosy in Malawi and Mali.

Gilchrist JJ et al.

Plos Pathogens, 2022

36121873 (PubMed )
Supplement: ppat.1010312.s027.docx

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Fava VM et al.

Plos Neglected Tropical Diseases, 2021

34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table

LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.

Omarjee O et al.

The Journal of Experimental Medicine, 2021

New or vanishing frontiers: LACC1-associated juvenile arthritis.

Al-Mayouf SM et al.

International Journal of Pediatrics & Adolescent Medicine, 2021

Family-based genome-wide association study of leprosy in Vietnam.

Gzara C et al.

Plos Pathogens, 2020

Pathway paradigms revealed from the genetics of inflammatory bowel disease.

Graham DB et al.

Nature, 2020

FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle.

Cader MZ et al.

Cell, 2020

LACC1 Required for NOD2-Induced, ER Stress-Mediated Innate Immune Outcomes in Human Macrophages and LACC1 Risk Variants Modulate These Outcomes.

Huang C et al.

Cell Reports, 2019

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.

Rabionet R et al.

Scientific Reports, 2019

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.

Beck DB et al.

Frontiers in Immunology, 2019

Association of LACC1, CEBPB-PTPN1, RIPK2 and ADO-EGR2 with ocular Behcet's disease in a Chinese Han population.

Wu P et al.

The British Journal of Ophthalmology, 2018

Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese.

Wang D et al.

American Journal of Human Genetics, 2018

LACC1 Gene Defects in Familial Form of Juvenile Arthritis.

Karacan I et al.

The Journal of Rheumatology, 2018

Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1.

Szymanski AM et al.

International Immunology, 2018

Genetic Susceptibility to Leprosy-From Classic Immune-Related Candidate Genes to Hypothesis-Free, Whole Genome Approaches.

Cambri G et al.

Frontiers in Immunology, 2018

Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Huang H et al.

Nature, 2017

28658209 (PubMed )
Supplement: NIHMS72714-supplement-Supplementary_Table_1.xlsx › annotation__summary

Human LACC1 increases innate receptor-induced responses and a LACC1 disease-risk variant modulates these outcomes.

Lahiri A et al.

Nature Communications, 2017

Lessons from characterization and treatment of the autoinflammatory syndromes.

Aksentijevich I et al.

Current Opinion in Rheumatology, 2017

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.

Takeuchi M et al.

Nature Genetics, 2017

Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.

Kallinich T et al.

Pediatric Rheumatology Online Journal, 2016

C13orf31 (FAMIN) is a central regulator of immunometabolic function.

Cader MZ et al.

Nature Immunology, 2016

LACC1 polymorphisms in inflammatory bowel disease and juvenile idiopathic arthritis.

Assadi G et al.

Genes and Immunity, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A6-01A.domain
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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."