Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.R596H
Back to variants list

SYNGAP1

NM_006772.3:p.R596H

Associated Papers

Atomistic simulations reveal impacts of missense mutations on the structure and function of SynGAP1.

Ali AE et al.

Briefings in Bioinformatics, 2024

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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."