Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD26
Variant:p.R43Q
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ANKRD26

NM_014915.3:p.R43Q

Associated Papers

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.

Ferrari S et al.

International Journal of Laboratory Hematology, 2026

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.

Elbaz Younes I et al.

Cancers, 2026

Differential transcript level of ANKRD26 and clinical phenotype among the ANKRD26 variants in the Japanese registry for congenital thrombocytopenia.

Sakamoto A et al.

British Journal of Haematology, 2025

ANKRD26 Gene Mutation and Thrombocytopenia-Is the Risk of Malignancy Dependent on the Mutation Variant?

Tjønnfjord EB et al.

Hematology Reports, 2025

Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26.

Dunstan-Harrison C et al.

Clinical Genetics, 2024

Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.

Attardi E et al.

Hemasphere, 2024

Functional categorization of gene regulatory variants that cause Mendelian conditions.

Cheng YHH et al.

Human Genetics, 2024

Analysis of clinical characteristics and treatment efficacy in two pediatric cases of ANKRD26-related thrombocytopenia.

Pang C et al.

Platelets, 2023

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.

Bohn E et al.

Frontiers in Molecular Biosciences, 2023

Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.

Vyas H et al.

Platelets, 2022

ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms.

Sullivan MJ et al.

Current Hematologic Malignancy Reports, 2022

Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.

Drazer MW et al.

Blood Advances, 2022

"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

Lassandro G et al.

Frontiers in Pediatrics, 2022

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s002.pdf

Relation between mutations in the 5' UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study.

Zidan NI et al.

Platelets, 2021

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.

Wahlster L et al.

The Journal of Experimental Medicine, 2021

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

Multiple Myeloma in a Patient with ANKRD26-Related Thrombocytopenia Successfully Treated with Combination Therapy and Autologous Stem Cell Transplant.

Husnain M et al.

Case Reports in Hematology, 2019

Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases.

Balduini A et al.

European Journal of Medical Genetics, 2018

[Mutation of ANKRD26 is responsible for thrombocytopenia 2 (THC2) : a family report in China].

Liu XF et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.

Zaninetti C et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

A novel ANKRD26 gene variant causing inherited thrombocytopenia in a family of Finnish origin: Another brick in the wall?

Averina M et al.

Thrombosis Research, 2017

Idiopathic Pulmonary Embolism in a case of Severe Family ANKRD26 Thrombocytopenia.

Guison J et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2017

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.

Bluteau D et al.

The Journal of Clinical Investigation, 2014

Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia.

Necchi V et al.

Thrombosis and Haemostasis, 2013

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