rs121909334
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.
|
19237541 |
2009 |
rs387906789
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.
|
17889967 |
2009 |
rs387906789
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.
|
19704082 |
2009 |
rs387906789
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
|
16247064 |
2005 |
rs121909329
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
|
15034582 |
2004 |
rs121909334
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
|
15034582 |
2004 |
rs387906789
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909330
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons.
|
28360103 |
2017 |
rs121909330
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation.
|
27768726 |
2016 |
rs121909335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response.
|
27226613 |
2016 |
rs1554669087
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.
|
26105173 |
2016 |
rs1554669087
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Targeted next-generation sequencing assay for detection of mutations in primary myopathies.
|
26627873 |
2016 |
rs121909330
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Global gene expression profiling in R155H knock-in murine model of VCP disease.
|
25388089 |
2015 |
rs121909335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.
|
26555887 |
2015 |
rs121909335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Involvement of peripheral and central nervous systems in a valosin-containing protein mutation.
|
24829604 |
2014 |
rs121909335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant.
|
25492614 |
2014 |
rs121909330
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.
|
22909335 |
2013 |
rs1554669087
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization.
|
23333620 |
2013 |
rs387906790
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity.
|
23349634 |
2013 |
rs121909330
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology.
|
23029473 |
2012 |
rs121909330
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Heteromeric p97/p97R155C complexes induce dominant negative changes in wild-type and autophagy 9-deficient Dictyostelium strains.
|
23056506 |
2012 |
rs121909335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
VCP mutations in familial and sporadic amyotrophic lateral sclerosis.
|
22078486 |
2012 |
rs121909335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP.
|
22270372 |
2012 |
rs1554669087
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP.
|
22270372 |
2012 |
rs1554669087
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Valosin-containing protein gene mutations: cellular phenotypes relevant to neurodegeneration.
|
21249466 |
2011 |