Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.H123L
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HBA2

NM_000517.6:p.H123L

Associated Papers

HbH Disease in an Elderly Man Due to Compound Heterozygosity for Deletional α-Thalassemia and Hb Dubai (HBA2:c.368A > T).

Devi TR et al.

Hemoglobin, 2025

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

Pathology consultation on HbA(1c) methods and interferences.

Rhea JM et al.

American Journal of Clinical Pathology, 2014

Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.

Alvarez-Dominguez JR et al.

The Journal of Biological Chemistry, 2013

Two new hemoglobin variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T].

Joly P et al.

Hemoglobin, 2011

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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."