EPCAM gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

EPCAM (epithelial cell adhesion molecule)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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EPCAM gene homepage

General information
Gene symbol	EPCAM
Gene name	epithelial cell adhesion molecule
Chromosome	2
Chromosomal band	p21
Imprinted	Unknown
Genomic reference	LRG_215
Transcript reference	NM_002354.2
Associated with diseases	DIAR5, HNPCC8
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	129
Unique public DNA variants reported	50
Individuals with public variants	144
Hidden variants	0
Date created	May 20, 2020
Date last updated	October 07, 2020
Version	EPCAM:201007

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	11529
Entrez Gene	4072
PubMed articles	EPCAM
OMIM - Gene	185535
OMIM - Diseases	DIAR5 (Diarrhea 5, with tufting enteropathy, congenital) HNPCC8 (Colorectal cancer, hereditary nonpolyposis, type 8)

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000054	2	epithelial cell adhesion molecule	NM_002354.2	NP_002345.2	129

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