PRKCG, protein kinase C gamma, 5582

N. diseases: 90; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918511
rs121918511
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796 2017
dbSNP: rs121918513
rs121918513
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796 2017
dbSNP: rs121918511
rs121918511
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs121918513
rs121918513
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs121918511
rs121918511
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation BEFREE Further, PKCgamma H101Y SCA14 mutation caused lack of total cellular PKCgamma enzyme activity, loss of connexin 57 phosphorylation on serines, and activation of caspase-12 in the PKCgamma H101Y SCA14 transgenic mouse. 19056342 2009
dbSNP: rs121918513
rs121918513
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation BEFREE It is possible that patients with the G128D mutation suffering from SCA14 may sometimes be classified as unaffected due to the varying clinical signs among family members. 18986758 2009
dbSNP: rs121918511
rs121918511
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		T 0.810 CausalMutation CLINVAR Codon 101 of PRKCG, a preferential mutation site in SCA14. 17659643 2007
dbSNP: rs121918511
rs121918511
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		T 0.810 CausalMutation CLINVAR Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. 12644968 2003
dbSNP: rs121918511
rs121918511
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation UNIPROT Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. 12644968 2003
dbSNP: rs121918513
rs121918513
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation UNIPROT Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. 12644968 2003
dbSNP: rs121918511
rs121918511
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		T 0.810 CausalMutation CLINVAR A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. 12164726 2002
dbSNP: rs121918513
rs121918513
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121918512
rs121918512
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796 2017
dbSNP: rs121918512
rs121918512
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs386134159
rs386134159
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs121918512
rs121918512
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.800 GeneticVariation UNIPROT Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. 12644968 2003
dbSNP: rs121918512
rs121918512
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		C 0.800 CausalMutation CLINVAR
dbSNP: rs386134159
rs386134159
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918518
rs121918518
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.720 GeneticVariation BEFREE Here we report the molecular neuropathology of SCA14 in post-mortem cerebellum and in human patient-derived induced pluripotent stem cells (iPSCs) carrying two distinct SCA14 mutations in the C1 domain of PKCγ, H36R and H101Q. 30249303 2018
dbSNP: rs121918518
rs121918518
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.720 GeneticVariation BEFREE A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. 16189624 2005
dbSNP: rs121918518
rs121918518
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		G 0.720 CausalMutation CLINVAR
dbSNP: rs386134168
rs386134168
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.710 GeneticVariation BEFREE Here, we show that the mutation V138E</span> of the protein kinase C γ (PKCγ) C1B domain (PKCγ-V138E), which is implicated in spinocerebellar ataxia type 14, exhibits a partially unfolded C-terminus. 24134140 2014
dbSNP: rs121918514
rs121918514
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.710 GeneticVariation BEFREE We therefore confirmed that the Gly118Asp mutation is a SCA14 founder mutation in the Dutch ADCA population. 15841389 2005
dbSNP: rs121918516
rs121918516
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.710 GeneticVariation BEFREE We have identified a new SCA14 family with the first mutation (F643L) located in the catalytic domain of the enzyme. 15313841 2004
dbSNP: rs121918515
rs121918515
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.710 GeneticVariation BEFREE Sequence analysis revealed a novel missense mutation, Gln127Arg, in all affected members of the family with SCA14. 14676051 2003