Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.R34W
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SPTA1

NM_003126.4:p.R34W

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.

Swierczek S et al.

Haematologica, 2013

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-File006.xls › TypeIII

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

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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."