Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.A111V
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HBA1

NM_000558.5:p.A111V

Associated Papers

Genetic Analysis and Clinical Relevance of HBA1:c.305T > C (Leu > Pro): A Novel Variant Linked to α-Thalassemia.

Zhou L et al.

Hemoglobin, 2025

Prevalence and Molecular Characteristics of Hemoglobin Variants in Laibin City, Central Guangxi of Southern China.

Huang YY 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-HBA1

The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C].

Mondesert E et al.

Hemoglobin, 2020

Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C].

Renoux C et al.

Hemoglobin, 2015

Automated analysis of hemoglobin variants using nanoLC-MS and customized databases.

Das R et al.

Journal of Proteome Research, 2013

23692286 (PubMed )
Supplement: pr4000625_si_001.pdf
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