Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E23K
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HBB

NM_000518.5:p.E23K

Associated Papers

Rare Coexistence of Hemoglobin D-Iran and Hemoglobin S in a Case from Central India.

Rani P et al.

Hemoglobin, 2025

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.

Tepakhan W et al.

Scientific Reports, 2024

Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.

Ozalp O et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset

Use of Capillary Electrophoresis Migration Position for the Presumptive Identification of Hemoglobin Variants Prevalent in China.

Xu M et al.

Hemoglobin, 2022

Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.

Xinh PT et al.

Molecular Biology Reports, 2022

Independent case-control study in KCNJ11 gene polymorphism with Type 2 diabetes Mellitus.

Alqadri N

Saudi Journal of Biological Sciences, 2022

Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.

Luo H et al.

Frontiers in Genetics, 2022

High Frequency of Hb E-Saskatoon (HBB: c.67G > A) in Brazilians: A New Genetic Origin?

Wagner SC et al.

Hemoglobin, 2016

Hemoglobinopathies in the Çukurova Region and Neighboring Provinces.

Yuzbasioglu Ariyurek S et al.

Hemoglobin, 2016

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.

Renoux C et al.

Hemoglobin, 2015

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R et al.

Hemoglobin, 2014

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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."