Varaico: Literature-Extracted Genetic Variants

Gene:TRAF3IP2
Variant:p.D10N
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TRAF3IP2

NM_147686.4:p.D10N

Associated Papers

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Nature Communications, 2025

40021644 (PubMed )
Supplement: 41467_2025_56719_MOESM3_ESM.xlsx › Supplementary_Data_20

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37873414 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_16

Genetic underpinnings of the psoriatic spectrum.

Hüffmeier U et al.

Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2023

A Familial Novel Putative-Pathogenic Mutation Identified in Plaque-Psoriasis by a Multigene Panel Analysis.

Nunziato M et al.

International Journal of Molecular Sciences, 2023

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

36653562 (PubMed )
Supplement: 41586_2022_5473_MOESM4_ESM.xlsx › Supplementary_Table_8

Allosteric inhibition of SHP2 uncovers aberrant TLR7 trafficking in aggravating psoriasis.

Zhu Y et al.

Embo Molecular Medicine, 2022

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.

Shafer S et al.

The Journal of Allergy and Clinical Immunology, 2021

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.

Heng AHS et al.

Bmc Medical Genomics, 2021

Psoriasis Caught in the NET.

Di Domizio J et al.

The Journal of Investigative Dermatology, 2019

Neutrophil Extracellular Traps Induce Human Th17 Cells: Effect of Psoriasis-Associated TRAF3IP2 Genotype.

Lambert S et al.

The Journal of Investigative Dermatology, 2019

The Genetics of Psoriasis and Psoriatic Arthritis.

O'Rielly DD et al.

The Journal of Rheumatology. Supplement, 2019

The Act1 D10N missense variant impairs CD40 signaling in human B-cells.

Yu N et al.

Genes and Immunity, 2019

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway.

Ehm MG et al.

Plos One, 2017

Association with Genetic Variants in the IL-23 and NF-κB Pathways Discriminates between Mild and Severe Psoriasis Skin Disease.

Nikamo P et al.

The Journal of Investigative Dermatology, 2015

Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Thareja G et al.

Bmc Genomics, 2015

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-A06P-01A.domain

The differential regulation of human ACT1 isoforms by Hsp90 in IL-17 signaling.

Wu L et al.

Journal of Immunology (baltimore, Md. : 1950), 2014

Genetic polymorphism in the TRAF3IP2 gene is associated with psoriasis vulgaris in a Japanese population.

Hayashi M et al.

Journal of Dermatological Science, 2014

Genetic Epidemiology of Psoriasis.

Gupta R et al.

Current Dermatology Reports, 2014

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

Boisson B et al.

Immunity, 2013

The genetics of psoriasis and psoriatic arthritis.

Chandran V

Clinical Reviews in Allergy & Immunology, 2013

The psoriasis-associated D10N variant of the adaptor Act1 with impaired regulation by the molecular chaperone hsp90.

Wang C et al.

Nature Immunology, 2013

New insight into the functions of the interleukin-17 receptor adaptor protein Act1 in psoriatic arthritis.

Doyle MS et al.

Arthritis Research & Therapy, 2012

Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization.

Böhm B et al.

Arthritis Research & Therapy, 2012

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.

Hüffmeier U et al.

Nature Genetics, 2010

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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."