Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.T1278I
Back to variants list

CNTNAP2

NM_014141.6:p.T1278I

Associated Papers

Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons.

Vogt D et al.

Cerebral Cortex (new York, N.y. : 1991), 2018

Contactin-associated protein-like 2, a protein of the neurexin family involved in several human diseases.

Saint-Martin M et al.

The European Journal of Neuroscience, 2018

Shining a light on CNTNAP2: complex functions to complex disorders.

Rodenas-Cuadrado P et al.

European Journal of Human Genetics : Ejhg, 2014

Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation.

Falivelli G et al.

Human Molecular Genetics, 2012

What does CNTNAP2 reveal about autism spectrum disorder?

Peñagarikano O et al.

Trends in Molecular Medicine, 2012

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Bakkaloglu B et al.

American Journal of Human Genetics, 2008

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."