Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K12Q
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HBA2

NM_000517.6:p.K12Q

Associated Papers

Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions.

Yu L et al.

Annals of Hematology, 2025

Enhancing Thalassemia Diagnosis: Advantages of Third-Generation Sequencing.

Huang M et al.

Clinical Laboratory, 2025

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

Tepakhan W et al.

Scientific Reports, 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

α-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [α31(B12)Arg→Ser (HBA1 or HBA2 c.96G>T or C)] with the α-Thalassemia-1 [- -SEA (Southeast Asian)] Deletion in Thailand.

Panyasai S et al.

Hemoglobin, 2020

In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.

Horri-Naceur A et al.

Hemoglobin, 2020

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

Henderson SJ et al.

Hemoglobin, 2016

Hb Ashburton [β12(A9)Thr → Pro; HBB: c.37A > C], a novel, mildly unstable variant and the first substitution identified at codon 12.

Brennan SO et al.

Hemoglobin, 2014

Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China.

Yao XY et al.

Gene, 2013

[Prevalence and molecular analysis of β-thalassemia in children of Han ethnicity in Chongqing city].

Yao XY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013

Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China.

Lin M et al.

Plos One, 2013

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China.

Xian J et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0

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