Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.R28S
Back to variants list

SPTA1

NM_003126.4:p.R28S

Associated Papers

Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants.

Cheng J et al.

Frontiers in Pediatrics, 2025

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.

Xie F et al.

Molecular Genetics & Genomic Medicine, 2021

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Niss O et al.

Blood Cells, Molecules & Diseases, 2016

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File011.xls › TypeI_

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."