Varaico: Literature-Extracted Genetic Variants

Gene:TRPM2
Variant:p.D780E
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TRPM2

NM_003307.4:p.D780E

Associated Papers

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

van de Putte R et al.

Plos One, 2019

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

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

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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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."