Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.C416R
Back to variants list

SPRED1

NM_152594.3:p.C416R

Associated Papers

Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration.

Hirata Y et al.

The Journal of Biological Chemistry, 2024

Epilepsy in Legius syndrome: Coincidence or causation?

Medina Lemus A et al.

American Journal of Medical Genetics. Part A, 2024

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Brems H et al.

The Keio Journal of Medicine, 2013

Review and update of SPRED1 mutations causing Legius syndrome.

Brems H et al.

Human Mutation, 2012

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."