Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.V63A
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HBA1

NM_000558.5:p.V63A

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-HBA1

α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].

Waye JS et al.

Hemoglobin, 2015

Codon 62 (GTG>GCG, Val→Ala) (α1) (HBA1: c.188T>C) causing nondeletional α-thalassemia in a Chinese family.

Liao C et al.

Hemoglobin, 2013

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