Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R564Q
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APC

NM_000038.6:p.R564Q

Associated Papers

Long non-coding RNA MEG3 rs7158663 polymorphism confers susceptibility to the development of sepsis and is associated with sepsis-induced inflammatory responses.

Maimaitirexiati X et al.

Cytokine, 2025

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

Venous thromboembolism risk in adults with hereditary thrombophilia: a systematic review and meta-analysis.

Alnor AB et al.

Annals of Hematology, 2024

39167180 (PubMed )
Supplement: 277_2024_5926_MOESM1_ESM.docx

Genetic landscape of thrombophilia in recurrent miscarriages.

Athar A et al.

Obstetrics & Gynecology Science, 2024

Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.

Lee NY et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Hereditary Protein S Deficiency and Activated Protein C Resistance Manifesting With Recurrent Thrombosis and Stroke.

Finsterer J

Cureus, 2023

The Progress of Research on Genetic Factors of Recurrent Pregnancy Loss.

Li Q et al.

Genetics Research, 2023

Laboratory Testing for Activated Protein C Resistance (APCR): An Update.

Favaloro EJ et al.

Methods in Molecular Biology (clifton, N.j.), 2023

Temporal Association between Hampton's Hump Pulmonary Embolism and First-Dose ChAdOx1 nCov-19 Vaccine in a Patient with Activated Protein C Resistance.

Kriegshäuser G et al.

Vaccines, 2022

The association between thrombophilic genes alterations and poor ovarian response in infertile women: a retrospective case-control study.

Borjian Boroujeni P et al.

Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2022

ARMS TaqMan real-time PCR for genotyping factor V Leiden mutation in Han Chinese.

Yu P et al.

Electrophoresis, 2020

Genetic risk factors for venous thromboembolism among infertile men with Klinefelter syndrome.

Hussein TM et al.

Journal of Clinical & Translational Endocrinology, 2020

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B et al.

Aging, 2020

32091409 (PubMed )
Supplement: aging-12-102783-s001..xlsx › Sheet1

ZNA probe immobilized single-use electrodes for impedimetric detection of nucleic acid hybridization related to single nucleotide mutation.

Erdem A et al.

Analytica Chimica Acta, 2019

Association of FV G1691A Polymorphism but not A4070G With Coronary Artery Disease.

Amara A et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Porkka N et al.

Oncotarget, 2017

29296220 (PubMed )
Supplement: oncotarget-08-108020-s006.xlsx › Sheet1

Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Ashktorab H et al.

Oncotarget, 2017

29245953 (PubMed )
Supplement: oncotarget-08-99966-s003.xlsx › AA.APC

Prevalence of Factor V Genetic Variants Associated With Indian APCR Contributing to Thrombotic Risk.

Sharma A et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

Genetic Risk Factors of Venous Thromboembolism in the East Algerian Population.

Moussaoui S et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

Atherosclerotic and thrombotic genetic and environmental determinants in Egyptian coronary artery disease patients: a pilot study.

Fawzy MS et al.

Bmc Cardiovascular Disorders, 2017

Laboratory Testing for Activated Protein C Resistance (APCR).

Mohammed S et al.

Methods in Molecular Biology (clifton, N.j.), 2017

The investigation of hereditary and acquired thrombophilia risk factors in the development of complications in pregnancy in Croatian women.

Lenz B et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2016

Factor-V HR2 haplotype and thromboembolic disease.

Aleksova A et al.

Acta Cardiologica, 2015

The Contributions of Thrombophilic Mutations to Genetic Susceptibility to Deep Venous Thrombosis in Iraqi Patients.

Al-Allawi NA et al.

Genetic Testing and Molecular Biomarkers, 2015

Impact of Inherited Prothrombotic Disorders on the Long-Term Clinical Outcome of Percutaneous Transluminal Angioplasty in Patients with Diabetes.

Dubský M et al.

Journal of Diabetes Research, 2015

Ischemic stroke in a patient with hetrozygous factor v leiden mutation: an uncommon association.

Ghalaut PS et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2014

Prevalence of thrombophilic gene polymorphisms in an azari population of iran.

Bargahi N et al.

Hematology Reports, 2014

The effect of FV-426 G/A gene variation on the occurrence of thrombosis.

Öztürk A et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2014

Identification of genetic contribution to ischemic stroke by screening of single nucleotide polymorphisms in stroke patients by using a case control study design.

Kumar A et al.

Bmc Neurology, 2013

Prevalence of genetic risk factors related with thrombophilia and hypofibrinolysis in patients with osteonecrosis of the femoral head in Poland.

Gagala J et al.

Bmc Musculoskeletal Disorders, 2013

An improved algorithm for activated protein C resistance and factor V Leiden screening.

Herskovits AZ et al.

American Journal of Clinical Pathology, 2013

Prevalence of 1691G>A FV mutation in females from Bosnia and Herzegovina--a preliminary report.

Valjevac A et al.

Bosnian Journal of Basic Medical Sciences, 2013

Case control study of the factor V Leiden and factor II G20210A mutation frequency in women with recurrent pregnancy loss.

Teremmahi Ardestani M et al.

Iranian Journal of Reproductive Medicine, 2013

Germ-line MTHFR C677T, FV H1299R and PAI-1 5G/4G variations in breast carcinoma.

Ozen F et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

Association analysis of genetic polymorphisms of factor V, factor VII and fibrinogen β chain genes with human abdominal aortic aneurysm.

Oszajca K et al.

Experimental and Therapeutic Medicine, 2012

Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population.

Alharbi KK et al.

Bioinformation, 2012

Are inherited thrombotic risk factors associated with fibrostenosis in Crohn's disease?

Novacek G et al.

Inflammatory Bowel Diseases, 2011

Hemodialysis vascular access thrombosis: The role of factor V Leiden, prothrombin gene mutation and ABO blood groups.

Rios DR et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Factor V Leiden thrombophilia.

Kujovich JL

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011

Inherited thrombophilia is associated with pregnancy losses that occur after 12th gestational week in Serbian population.

Mitic G et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2010

The significance of genetic polymorphisms of factor V Leiden and prothrombin in the preeclamptic Polish women.

Seremak-Mrozikiewicz A et al.

Journal of Thrombosis and Thrombolysis, 2010

A study on thrombophilic factors in Italian Behcet's patients.

Caramaschi P et al.

Joint Bone Spine, 2010

Impact of thrombogenic mutations on clinical phenotypes of von Willebrand disease.

Ahmad F et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2010

Factor V Leiden mutation in Arabs in Kuwait by real-time PCR: different values for different Arabs.

Dashti AA et al.

Journal of Human Genetics, 2010

Impact of hemostatic gene single point mutations in patients with non-diabetic coronary artery disease.

Var A et al.

Molecular Biology Reports, 2009

The prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase polymorphism C677T among G6PD deficient individuals from Western Iran.

Mozafari H et al.

Molecular Biology Reports, 2009

The factor V G1691A, factor V H1299R, prothrombin G20210A polymorphisms in children with family history of premature coronary artery disease.

Ciftdoğan DY et al.

Coronary Artery Disease, 2009

Fibrinogen Aalpha Thr312Ala polymorphism is associated with chronic thromboembolic pulmonary hypertension.

Suntharalingam J et al.

The European Respiratory Journal, 2008

Prevalence of inherited thrombophilia in patients with severe ovarian hyperstimulation syndrome.

Machac S et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2006

Inherited defects of coagulation Factor V: the thrombotic side.

Vos HL

Journal of Thrombosis and Haemostasis : Jth, 2006

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