Mutations in VCP


	Mutation	Exon / Domain	Citations

1	VCP Arg93Cys (g.4438C>T)	EX3 CDC48	Guyant-Maréchal L, 2006 Hübbers CU, 2007 Krause S, 2007 Shi Z, 2012

2	VCP Arg95Gly (g.4444C>G)	EX3 CDC48	Watts GD, 2004

3	VCP Arg95Cys (g.4444C>T)	EX3 CDC48	Kimonis VE, 2008

4	VCP Arg95His (g.4445G>A) Pathogenic nature unclear	EX3 CDC48	Kaleem M, 2007

Selection: Gene = VCP EX3

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Alzheimer Disease & Frontotemporal Dementia Mutation Database