Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K17N
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HBA2

NM_000517.6:p.K17N

Associated Papers

The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.

Zhao X et al.

Orphanet Journal of Rare Diseases, 2025

Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.

Zhuang J et al.

Bmc Medical Genomics, 2024

Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese population.

Zhuang J et al.

Molecular Genetics & Genomic Medicine, 2024

Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China.

Chen YP et al.

Journal of Blood Medicine, 2024

Evaluation of interference from 16 hemoglobin variants on hemoglobin A1c measurement by five methods.

Yang X et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2023

36534489 (PubMed )
Supplement: supplement_1.pdf

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

Analysis of rare thalassemia genetic variants based on third-generation sequencing.

Peng C et al.

Scientific Reports, 2022

Prevalence and molecular characterization of structural hemoglobin variants in the Dongguan region of Guangdong province, southern China.

Lou JW et al.

Hemoglobin, 2014

Molecular epidemiological survey of hemoglobinopathies in the Wuxi region of Jiangsu Province, eastern China.

Lin M et al.

Hemoglobin, 2013

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