Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.K61E
Back to variants list

SPTBN2

NM_006946.4:p.K61E

Associated Papers

Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin.

Atang AE et al.

Cells, 2023

Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in β-III-spectrin.

Atang AE et al.

Biorxiv : the Preprint Server for Biology, 2023

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

Sancho P et al.

International Journal of Molecular Sciences, 2021

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Aitken S et al.

American Journal of Human Genetics, 2019

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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."