Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E1327G
Back to variants list

NF1

NM_001042492.3:p.E1327G

Associated Papers

Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.

Long A et al.

Human Mutation, 2022

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

Thomas L 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."