Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.T308A
Back to variants list

MECP2

NM_004992.4:p.T308A

Associated Papers

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Schönewolf-Greulich B et al.

Clinical Genetics, 2016

Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.

Ebert DH et al.

Nature, 2013

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."