KEAP1 (Entrez ID: 9817)

Entrez Gene ID	9817
Official Gene Symbol	KEAP1 (GeneCards)
Full name	kelch like ECH associated protein 1
Location	19p13.2
Other ids	Vega : OTTHUMG00000180579 MIM : 606016 HGNC : HGNC:23177 Ensembl : ENSG00000079999
Other names	INrf2, KLHL19
Summary	This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]

Variants

Found 11 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
1136	9817	KEAP1	19	10597407	10597407	Human Skin Fibroblasts	HiSeq 2500
30472	9817	KEAP1	19	10602497	10602497	Asymptomatic	HiSeq 2500 NGS gene panel
30473	9817	KEAP1	19	10602391	10602391	Asymptomatic	HiSeq 2500 NGS gene panel
30474	9817	KEAP1	19	10610494	10610494	Asymptomatic	HiSeq 2500 NGS gene panel
31363	9817	KEAP1	19	10602781	10602781	Asymptomatic	HiSeq 2500 NGS gene panel
31364	9817	KEAP1	19	10602781	10602781	Asymptomatic	HiSeq 2500 NGS gene panel
31365	9817	KEAP1	19	10599932	10599932	Asymptomatic	HiSeq 2500 NGS gene panel
31366	9817	KEAP1	19	10610316	10610317	Asymptomatic	HiSeq 2500 NGS gene panel
31367	9817	KEAP1	19	10602669	10602669	Asymptomatic	HiSeq 2500 NGS gene panel
31368	9817	KEAP1	19	10610687	10610687	Asymptomatic	HiSeq 2500 NGS gene panel
31369	9817	KEAP1	19	10610144	10610144	Asymptomatic	HiSeq 2500 NGS gene panel