Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.K48R
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SPTA1

NM_003126.4:p.K48R

Associated Papers

Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.

Qu HQ et al.

Journal of Molecular Medicine (berlin, Germany), 2025

39730912 (PubMed )
Supplement: 109_2024_2510_MOESM2_ESM.xlsx › Sheet1

Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.

Gaetani M et al.

Blood, 2008

Dynamic molecular modeling of pathogenic mutations in the spectrin self-association domain.

Zhang Z et al.

Blood, 2001

Identification of ubiquitinated repeats in human erythroid alpha-spectrin.

Galluzzi L et al.

European Journal of Biochemistry, 2000

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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."