Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.S280P
Back to variants list

UBE3B

NM_130466.4:p.S280P

Associated Papers

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

Chahrour MH et al.

Plos Genetics, 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."