Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.D398N
Back to variants list

SPRED1

NM_152594.3:p.D398N

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

Review and update of SPRED1 mutations causing Legius syndrome.

Brems H et al.

Human Mutation, 2012

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Messiaen L et al.

Jama, 2009

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."