Varaico: Literature-Extracted Genetic Variants

Gene:EOGT
Variant:p.R377Q
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EOGT

NM_001278689.2:p.R377Q

Associated Papers

O-GlcNAc glycans in the mammalian extracellular environment.

Tsukamoto Y et al.

Carbohydrate Research, 2025

Secretory expression of mammalian NOTCH tandem epidermal growth factor-like repeats based on increased O-glycosylation.

Zhang A et al.

Analytical Biochemistry, 2022

Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.

Lukas ML et al.

American Journal of Medical Genetics. Part A, 2022

N-Glycans on EGF domain-specific O-GlcNAc transferase (EOGT) facilitate EOGT maturation and peripheral endoplasmic reticulum localization.

Alam SMD et al.

The Journal of Biological Chemistry, 2020

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Maddirevula S et al.

Genome Biology, 2020

32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3

Structure and function of extracellular O-GlcNAc.

Ogawa M et al.

Current Opinion in Structural Biology, 2019

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN et al.

Human Mutation, 2018

EOGT and O-GlcNAc on secreted and membrane proteins.

Varshney S et al.

Biochemical Society Transactions, 2017

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

N-acetylglucosamine modification in the lumen of the endoplasmic reticulum.

Ogawa M et al.

Biochimica Et Biophysica Acta, 2015

Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.

Ogawa M et al.

The Journal of Biological Chemistry, 2015

Extracellular O-linked β-N-acetylglucosamine: Its biology and relationship to human disease.

Ogawa M et al.

World Journal of Biological Chemistry, 2014

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Dulak AM et al.

Nature Genetics, 2013

23525077 (PubMed )
Supplement: NIHMS474888-supplement-5.xlsx › S._Table_15

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

Shaheen R et al.

American Journal of Human Genetics, 2013

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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."