COBL (Entrez ID: 23242)

Entrez Gene ID	23242
Official Gene Symbol	COBL (GeneCards)
Full name	cordon-bleu WH2 repeat protein
Location	7p12.1
Other ids	Vega : OTTHUMG00000155999 MIM : 610317 HGNC : HGNC:22199 Ensembl : ENSG00000106078
Other names	None
Summary	This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]

Variants

Found 33 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
10415	23242	COBL	7	51892914	51892914	Asymptomatic	HiSeq X Ten
10435	23242	COBL	7	52965384	52965384	Asymptomatic	HiSeq X Ten
10554	23242	COBL	7	52070261	52070261	Asymptomatic	HiSeq X Ten
10601	23242	COBL	7	52809977	52809977	Asymptomatic	HiSeq X Ten
10602	23242	COBL	7	53053322	53053322	Asymptomatic	HiSeq X Ten
10613	23242	COBL	7	51636788	51636788	Asymptomatic	HiSeq X Ten
10678	23242	COBL	7	51803404	51803404	Asymptomatic	HiSeq X Ten
10708	23242	COBL	7	52019388	52019388	Asymptomatic	HiSeq X Ten
10714	23242	COBL	7	52510079	52510079	Asymptomatic	HiSeq X Ten
10814	23242	COBL	7	51579062	51579062	Asymptomatic	HiSeq X Ten
10815	23242	COBL	7	52117521	52117521	Asymptomatic	HiSeq X Ten
10848	23242	COBL	7	51801161	51801161	Asymptomatic	HiSeq X Ten
10998	23242	COBL	7	52184090	52184090	Asymptomatic	HiSeq X Ten
10999	23242	COBL	7	52493721	52493721	Asymptomatic	HiSeq X Ten
11031	23242	COBL	7	52466298	52466298	Asymptomatic	HiSeq X Ten
11059	23242	COBL	7	52143882	52143882	Asymptomatic	HiSeq X Ten
11125	23242	COBL	7	52944903	52944903	Asymptomatic	HiSeq X Ten
11196	23242	COBL	7	51550832	51550832	Asymptomatic	HiSeq X Ten
11197	23242	COBL	7	51755731	51755731	Asymptomatic	HiSeq X Ten
11216	23242	COBL	7	52429266	52429266	Asymptomatic	HiSeq X Ten
11307	23242	COBL	7	52691715	52691715	Asymptomatic	HiSeq X Ten
11347	23242	COBL	7	51654049	51654049	Cockayne syndrome	HiSeq X Ten
11445	23242	COBL	7	52347563	52347563	Cockayne syndrome	HiSeq X Ten
11558	23242	COBL	7	51594864	51594864	Xeroderma Pigmentosum	HiSeq X Ten
23247	23242	COBL	7	51889267	51889267	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
26304	23242	COBL	7	51415485	51415485	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
26384	23242	COBL	7	52266514	52266514	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
26438	23242	COBL	7	53026522	53026522	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
26439	23242	COBL	7	53051985	53051985	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
26450	23242	COBL	7	51416402	51416402	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
26505	23242	COBL	7	51416402	51416402	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
26522	23242	COBL	7	51630940	51630940	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
26523	23242	COBL	7	52900502	52900502	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning