Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K128E
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HBA2

NM_000517.6:p.K128E

Associated Papers

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-HBA2

First Report of an α Chain Variant [Hb Coombe Park (HBA2: c.382A>G)] from India, Coinherited with a Novel SERPINC1 Gene Mutation: A Double Whammy?

Nair SB et al.

Hemoglobin, 2022

Hb Waikato [α127(H10)Lys→Gln; HBA1: c.382A>C]: A Novel High Oxygen Affinity Variant.

Moore JA et al.

Hemoglobin, 2021

A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.

Khalil MSM 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

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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."