Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R202Q
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ETV6

NM_001987.5:p.R202Q

Associated Papers

IFNAR2 p.F8S Variant Associates with Severe COVID-19 and Adaptive Immune Cell Activation Modulation.

Malvestiti F et al.

International Journal of Molecular Sciences, 2026

41596638 (PubMed )
Supplement: ijms-27-00992-s001.zip › Malvestiti_et_al.__Supplementary_Table__y.xlsx › Table_S1

Impact of MEFV gene variants on clinical presentation in Familial Mediterranean Fever: A focus on Exon 2 mutations.

Kulaksiz B et al.

Reumatologia Clinica, 2026

Increasing Importance of Genotype-Phenotype Correlations Associated with Common and Rare MEFV Gene Mutations in FMF Patients in the Last Thirty Years.

Yildirim S et al.

Journal of Clinical Medicine, 2025

Molecular analyses of MEFV gene mutation variants in Turkish population.

Aksoy R et al.

Molecular Biology Reports, 2024

Familial Mediterranean fever with colonic lesions: A case report.

Ariga H et al.

Den Open, 2024

Effectiveness of Colchicine or Canakinumab in Japanese Patients with Familial Mediterranean Fever: A Single-Center Study.

Yoshida S et al.

Journal of Clinical Medicine, 2023

Cross-species oncogenomics offers insight into human muscle-invasive bladder cancer.

Wong K et al.

Genome Biology, 2023

37635261 (PubMed )
Supplement: 13059_2023_3026_MOESM3_ESM.xlsx › Table_S2

Apical fibrosis was the most common incidental pulmonary finding in a familial Mediterranean fever cohort.

Şen N et al.

Clinical Rheumatology, 2023

Renal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study.

Bekis Bozkurt H et al.

European Journal of Pediatrics, 2023

<Editors' Choice> Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multiple MEFV gene variants outside exon 10: a case report.

Takahashi N et al.

Nagoya Journal of Medical Science, 2023

Late-onset familial mediterranean fever: single-center experience and literature review.

Aydin O et al.

Internal and Emergency Medicine, 2022

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Dundar M et al.

Functional & Integrative Genomics, 2022

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S18_SNV-RNA

Familial coexistence of demyelinating diseases and familial Mediterranean fever.

Korkmaz C et al.

Rheumatology International, 2022

Evaluation of S100A12 protein levels in children with familial Mediterranean fever

Türkmenoğlu Y et al.

Turkish Journal of Medical Sciences, 2021

Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.

Nishii R et al.

Blood, 2021

Mediterranean fever (MEFV) gene profile and a novel missense mutation (P313H) in Iranian Azari-Turkish patients.

Rostamizadeh L et al.

Annals of Human Genetics, 2020

[Atypical clinical presentation of familial Mediterranean fever resembling colonic diverticulitis in an elderly patient:a case report].

Takahashi S et al.

Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 2020

Canakinumab in Children with Familial Mediterranean Fever: A Single-Center, Retrospective Analysis.

Kisla Ekinci RM et al.

Paediatric Drugs, 2019

Exon 2: Is it the good police in familial mediterranean fever?

Bilge ŞY et al.

European Journal of Rheumatology, 2019

The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

Gumus E

Journal of Clinical Medicine, 2018

A variant allele of the Mediterranean-fever gene increases the severity of gout.

Balkarli A et al.

International Journal of Rheumatic Diseases, 2018

One novel and two uncommon MEFV mutations in Japanese patients with familial Mediterranean fever: a clinicogenetic study.

Kishida D et al.

Rheumatology International, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_TSG

Increased Frequency of MEFV Genes in Patients with Epigastric Pain Syndrome.

Bd C et al.

Balkan Journal of Medical Genetics : Bjmg, 2017

A novel cluster of patients with Familial Mediterranean Fever (FMF) in southern Italy.

Bonfrate L et al.

European Journal of Clinical Investigation, 2017

Could familial Mediterranean fever gene mutations be related to PFAPA syndrome?

Celiksoy MH et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2016

Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.

Moriyama T et al.

The Lancet. Oncology, 2015

26522332 (PubMed )
Supplement: NIHMS737731-supplement-1.pdf

TLR2 and TLR4 gene expression levels and associated factors during acute attack and attack-free periods in familial Mediterranean fever.

Karakose MZ et al.

Clinical Rheumatology, 2015

Clinical evaluation of R202Q alteration of MEFV genes in Turkish children.

Comak E et al.

Clinical Rheumatology, 2014

Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations.

Kishida D et al.

Arthritis Research & Therapy, 2014

The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.

Sayın Kocakap DB et al.

Molecular Biology Reports, 2014

A Japanese pediatric patient with coexisting systemic lupus erythematosus and familial Mediterranean fever.

Inamo Y et al.

Lupus, 2013

The contribution of SAA1 polymorphisms to Familial Mediterranean fever susceptibility in the Japanese population.

Migita K et al.

Plos One, 2013

Familial Mediterranean fever in Japan.

Migita K et al.

Medicine, 2012

Liver involvement in children with Familial Mediterranean fever.

Unal F et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2012

Clinical relevance of MEFV gene mutations in Japanese patients with unexplained fever.

Migita K et al.

The Journal of Rheumatology, 2012

Clinical and genetic features of familial Mediterranean fever in Japan.

Tsuchiya-Suzuki A et al.

The Journal of Rheumatology, 2009

[Familial Mediterranean fever as representative autoinflammatory disease].

Yamazaki K et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2009

[Is there a relationship between gouty arthritis and Mediterranean fever gene mutations?].

Sari I et al.

Revista Brasileira De Reumatologia, 0

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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."