Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.R582P
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TCF4

NM_001083962.2:p.R582P

Associated Papers

Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.

Sirp A et al.

The Journal of Biological Chemistry, 2021

Survival control of oligodendrocyte progenitor cells requires the transcription factor 4 during olfactory bulb development.

Zhang Y et al.

Cell Death & Disease, 2021

The subcellular localization of bHLH transcription factor TCF4 is mediated by multiple nuclear localization and nuclear export signals.

Greb-Markiewicz B et al.

Scientific Reports, 2019

Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine.

Yang J et al.

Nucleic Acids Research, 2019

Disruption of TCF4 regulatory networks leads to abnormal cortical development and mental disabilities.

Li H et al.

Molecular Psychiatry, 2019

Targetable genetic alterations of TCF4 (E2-2) drive immunoglobulin expression in diffuse large B cell lymphoma.

Jain N et al.

Science Translational Medicine, 2019

The schizophrenia- and autism-associated gene, transcription factor 4 regulates the columnar distribution of layer 2/3 prefrontal pyramidal neurons in an activity-dependent manner.

Page SC et al.

Molecular Psychiatry, 2018

Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.

Thaxton C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless.

Tamberg L et al.

Biology Open, 2015

Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.

Sepp M et al.

Human Molecular Genetics, 2012

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.

Whalen S et al.

Human Mutation, 2012

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.

Takano K et al.

Clinical Genetics, 2010

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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."