Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.N69H
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HBA2

NM_000517.6:p.N69H

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-Full_dataset

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

Horri-Naceur A et al.

Hemoglobin, 2020

Hemoglobin variants found in relation to HbA1c testing: high occurrence of Hb Athens-Georgia in the Northern Jutland, Denmark.

Nybo J et al.

Clinical Chemistry and Laboratory Medicine, 2019

Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene.

Kaufmann JO et al.

Hemoglobin, 2010

Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.

Moradkhani K et al.

Annals of Hematology, 2009

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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."