Varaico: Literature-Extracted Genetic Variants

Gene:EPCAM
Variant:p.Q89H
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EPCAM

NM_002354.3:p.Q89H

Associated Papers

APC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation.

Chan-Pak-Choon F et al.

The Journal of Pathology, 2025

40879644 (PubMed )
Supplement: PATH-267-241-s002.xlsx › Table_S1

Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.

Lieb V et al.

Cells, 2022

36429046 (PubMed )
Supplement: cells-11-03618-s001.zip › Suppl._files › Suppl._Table_S2_.xlsx › All

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › All

Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.

Li C et al.

Genes, 2020

32824926 (PubMed )
Supplement: genes-11-00953-s001.zip › Table_S4.xlsx › Sheet1

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Van Marcke C et al.

Breast Cancer Research : Bcr, 2020

32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

Pathak SJ et al.

Human Mutation, 2019

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.

D Hidalgo-Santos A et al.

International Journal of Endocrinology and Metabolism, 2018

30323850 (PubMed )
Supplement: ijem-16-03-67329-s001.pdf

Identification of genetic variants for clinical management of familial colorectal tumors.

Dominguez-Valentin M et al.

Bmc Medical Genetics, 2018

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Castellanos E et al.

Scientific Reports, 2017

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

He KY et al.

Plos One, 2016

27930734 (PubMed )
Supplement: pone.0167847.s002.xls › S2

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S et al.

Jama Oncology, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
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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."