Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD26
Variant:p.R45Q
Back to variants list

ANKRD26

NM_014915.3:p.R45Q

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

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

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

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

Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.

Gilad O et al.

Haematologica, 2022

35295078 (PubMed )
Supplement: 2021_280116_GILAD_SUPPL.pdf

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-s004.xlsx › ALL

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

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Kim B et al.

Plos One, 2019

30840646 (PubMed )
Supplement: pone.0212228.s002.pdf

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

Spectrum of 5'UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected.

Ferrari S et al.

Platelets, 2017

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

Guison J et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2017

Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan.

Yoshimi A et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016

Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.

Ouchi-Uchiyama M et al.

Pediatric Blood & Cancer, 2015

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

Bluteau D et al.

The Journal of Clinical Investigation, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."