APC (Entrez ID: 324)

Entrez Gene ID	324
Official Gene Symbol	APC (GeneCards)
Full name	APC, WNT signaling pathway regulator
Location	5q22.2
Other ids	Vega : OTTHUMG00000128806 MIM : 611731 HGNC : HGNC:583 Ensembl : ENSG00000134982
Other names	GS, DP2, DP3, BTPS2, DP2.5, PPP1R46
Summary	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]

Variants

Found 13 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
334	324	APC	5	112173991	112173992	Adenomatous polyposis coli	ABI3130XL
576	324	APC	5	112175480	112175480	Familial adenomatous polyposis	ABI3130XL PCR cloning
577	324	APC	5	112175480	112175480	Familial adenomatous polyposis	ABI3130XL PCR cloning
578	324	APC	5	112175480	112175480	Familial adenomatous polyposis	ABI3130XL PCR cloning
579	324	APC	5	112175480	112175480	Familial adenomatous polyposis	ABI3130XL PCR cloning
580	324	APC	5	112175480	112175480	Familial adenomatous polyposis	ABI3130XL PCR cloning
581	324	APC	5	112157634	112157635	Familial adenomatous polyposis	ABI3130XL PCR cloning S35 Sequencing color selective and nonselectivePCR cloning
7919	324	APC	5	112165121	112165121	Asymptomatic	ABI3130XL PCR cloning S35 Sequencing color selective and nonselectivePCR cloning HiSeq X Ten
8087	324	APC	5	112159781	112159781	Asymptomatic	ABI3130XL PCR cloning S35 Sequencing color selective and nonselectivePCR cloning HiSeq X Ten
8807	324	APC	5	112194555	112194555	Xeroderma Pigmentosum	ABI3130XL PCR cloning S35 Sequencing color selective and nonselectivePCR cloning HiSeq X Ten
25872	324	APC	5	112060023	112060023	Asymptomatic	ABI3130XL PCR cloning S35 Sequencing color selective and nonselectivePCR cloning HiSeq X Ten Single cell Sequencing Cell cloning
34377	324	APC	5	112089093	112089093	Asymptomatic	ABI3130XL PCR cloning S35 Sequencing color selective and nonselectivePCR cloning HiSeq X Ten Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing
34644	324	APC	5	112174466	112174466	Familial adenomatous polyposis	ABI3130XL PCR cloning S35 Sequencing color selective and nonselectivePCR cloning HiSeq X Ten Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing Sanger Sequencing Amplicon Sequencing