Varaico: Literature-Extracted Genetic Variants

Gene:DISC1
Variant:p.R37W
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DISC1

NM_018662.3:p.R37W

Associated Papers

Mutations in DISC1 alter IP3R and voltage-gated Ca2+ channel functioning, implications for major mental illness.

Rittenhouse AR et al.

Neuronal Signaling, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

The increased density of the habenular neurons, high impulsivity, aggression and resistant fear memory in Disc1-Q31L genetic mouse model of depression.

Serykh A et al.

Behavioural Brain Research, 2020

DISC1 Regulates Mitochondrial Trafficking in a Miro1-GTP-Dependent Manner.

Norkett R et al.

Frontiers in Cell and Developmental Biology, 2020

Discovery of rare variants implicated in schizophrenia using next-generation sequencing.

Rhoades R et al.

Journal of Translational Genetics and Genomics, 2019

Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia.

Teng S et al.

Molecular Psychiatry, 2018

DISC1 causes associative memory and neurodevelopmental defects in fruit flies.

Furukubo-Tokunaga K et al.

Molecular Psychiatry, 2016

DISC1-dependent Regulation of Mitochondrial Dynamics Controls the Morphogenesis of Complex Neuronal Dendrites.

Norkett R et al.

The Journal of Biological Chemistry, 2016

708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.

Thomson PA et al.

Molecular Psychiatry, 2014

DISC1 complexes with TRAK1 and Miro1 to modulate anterograde axonal mitochondrial trafficking.

Ogawa F et al.

Human Molecular Genetics, 2014

DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan.

Porteous DJ et al.

Molecular Psychiatry, 2014

A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins.

Eykelenboom JE et al.

Human Molecular Genetics, 2012

DISC1 variants 37W and 607F disrupt its nuclear targeting and regulatory role in ATF4-mediated transcription.

Malavasi EL et al.

Human Molecular Genetics, 2012

DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness.

Soares DC et al.

Acs Chemical Neuroscience, 2011

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

Osbun N et al.

American Journal of Medical Genetics. Part A, 2011

PKA phosphorylation of NDE1 is DISC1/PDE4 dependent and modulates its interaction with LIS1 and NDEL1.

Bradshaw NJ et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011

Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia.

Song W et al.

Biochemical and Biophysical Research Communications, 2008

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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."