Varaico: Literature-Extracted Genetic Variants

Gene:TRPM2
Variant:p.D543E
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TRPM2

NM_003307.4:p.D543E

Associated Papers

Reviewing critical TRPM2 variants through a structure-function lens.

Tóth ÁV et al.

Journal of Biotechnology, 2024

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

TRPM2, a Susceptibility Gene for Bipolar Disorder, Regulates Glycogen Synthase Kinase-3 Activity in the Brain.

Jang Y et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

Role of an N-terminal splice segment in the activation of the cation channel TRPM2 by ADP-ribose and hydrogen peroxide.

Kühn FJ et al.

Neurochemical Research, 2009

TRPM2 variants and bipolar disorder risk: confirmation in a family-based association study.

Xu C et al.

Bipolar Disorders, 2009

Fine mapping of a susceptibility locus for bipolar and genetically related unipolar affective disorders, to a region containing the C21ORF29 and TRPM2 genes on chromosome 21q22.3.

McQuillin A et al.

Molecular Psychiatry, 2006

Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.

Zhang W et al.

Genes and Immunity, 0

23615072 (PubMed )
Supplement: NIHMS458938-supplement-1.xls › Supplemental_table_3
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