DIAPH3 (Entrez ID: 81624)

Entrez Gene ID	81624
Official Gene Symbol	DIAPH3 (GeneCards)
Full name	diaphanous related formin 3
Location	13q21.2
Other ids	Vega : OTTHUMG00000017004 MIM : 614567 HGNC : HGNC:15480 Ensembl : ENSG00000139734
Other names	AN, DIA2, DRF3, AUNA1, NSDAN, diap3, mDia2
Summary	This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Variants

Found 9 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
17213	81624	DIAPH3	13	60310921	60310921	Asymptomatic	HiSeq X Ten
17331	81624	DIAPH3	13	60651484	60651484	Asymptomatic	HiSeq X Ten
17440	81624	DIAPH3	13	60438491	60438491	Asymptomatic	HiSeq X Ten
17463	81624	DIAPH3	13	60701698	60701698	Asymptomatic	HiSeq X Ten
17699	81624	DIAPH3	13	60457172	60457172	Asymptomatic	HiSeq X Ten
17745	81624	DIAPH3	13	60564414	60564414	Asymptomatic	HiSeq X Ten
17898	81624	DIAPH3	13	60394856	60394856	Cockayne syndrome	HiSeq X Ten
27762	81624	DIAPH3	13	60357476	60357476	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
29871	81624	DIAPH3	13	60548519	60548519	Autism Spectrum Disorders	HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500