DIAPH2 (Entrez ID: 1730)

Entrez Gene ID	1730
Official Gene Symbol	DIAPH2 (GeneCards)
Full name	diaphanous related formin 2
Location	Xq21.33
Other ids	Vega : OTTHUMG00000022689 MIM : 300108 HGNC : HGNC:2877 Ensembl : ENSG00000147202
Other names	DIA, POF, DIA2, DRF2, POF2, POF2A
Summary	The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Variants

Found 9 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
22071	1730	DIAPH2	X	96605223	96605223	Asymptomatic	HiSeq X Ten
22296	1730	DIAPH2	X	97750294	97750294	Cockayne syndrome	HiSeq X Ten
22334	1730	DIAPH2	X	97768258	97768258	Xeroderma Pigmentosum	HiSeq X Ten
22344	1730	DIAPH2	X	96414853	96414853	Xeroderma Pigmentosum	HiSeq X Ten
24161	1730	DIAPH2	X	96604302	96604302	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
24187	1730	DIAPH2	X	98336638	98336638	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28895	1730	DIAPH2	X	96640475	96640475	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28931	1730	DIAPH2	X	96255543	96255543	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
29002	1730	DIAPH2	X	98088752	98088752	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning