APC gene homepage - Global Variome shared LOVD

Global Variome shared LOVD

APC (adenomatous polyposis coli)

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	Curators: Stefan Aretz, Isabel Spier and Xiaoyu Sherry Yin

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APC gene homepage

General information
Gene symbol	APC
Gene name	adenomatous polyposis coli
Chromosome	5
Chromosomal band	q21-q22
Imprinted	Unknown
Genomic reference	LRG_130
Transcript reference	NM_000038.5
Associated with diseases	cancer, gastric, cancer, liver, CRC, FAP-1, HDD, polyposis
Citation reference(s)	-
Refseq URL	Genomic reference sequence
Curators (3)	Stefan Aretz, Isabel Spier and Xiaoyu Sherry Yin
Total number of public variants reported	5388
Unique public DNA variants reported	1767
Individuals with public variants	4839
Hidden variants	38
Notes	Aliases for APC: BTPS2, DP2, DP2.5, DP3, GS. this is one of the InSiGHT gene variant databases. We gratefully acknowledge the work of *Kirsten Wöllner* acting as curator (until 2018).
Date created	September 09, 2009
Date last updated	December 23, 2019
Version	APC:191223

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
Homepage URL	https://www.LOVD.nl/APC
External URL	For submissions please use the LOVDv2 databaste InSiGHT Institut für Humangenetik, Universität Bonn Orphanet UMD APC database
HGNC	583
Entrez Gene	324
PubMed articles	APC
OMIM - Gene	611731
OMIM - Diseases	cancer, gastric (cancer, gastric (Neoplasm of stomach)) cancer, liver (cancer, hepatocellular) CRC (cancer, colorectal (CRC)) FAP-1 (adenomatous polyposis, familial, type 1 (FAP-1, Gardner syndrome)) HDD (desmoid disease, hereditary (HDD))
HGMD	APC
GeneCards	APC
GeneTests	APC

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00002660	5	transcript variant 3	NM_000038.5	NP_000029.2	5388

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases. We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.