rs121909329
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity.
|
23349634 |
2013 |
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 |
rs121909329
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Global gene expression profiling in R155H knock-in murine model of VCP disease.
|
25388089 |
2015 |
rs121909329
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology.
|
23029473 |
2012 |
rs121909329
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.
|
19237541 |
2009 |
rs121909329
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exome sequencing reveals VCP mutations as a cause of familial ALS.
|
21145000 |
2010 |
rs121909334
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Altered intersubunit communication is the molecular basis for functional defects of pathogenic p97 mutants.
|
24196964 |
2013 |
rs121909334
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Exome sequencing reveals VCP mutations as a cause of familial ALS.
|
21145000 |
2010 |
rs121909334
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization.
|
23333620 |
2013 |
rs121909334
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
|
21984748 |
2012 |
rs121909334
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels.
|
23498975 |
2013 |
rs121909334
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exome sequencing reveals VCP mutations as a cause of familial ALS.
|
21145000 |
2010 |
rs121909334
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP.
|
22270372 |
2012 |
rs121909334
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity.
|
23349634 |
2013 |
rs121909334
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.
|
19237541 |
2009 |
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 |
rs121909334
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Phenotypic variability in three families with valosin-containing protein mutation.
|
22900631 |
2013 |
rs121909334
|
|
T |
0.800 |
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 |
rs387906789
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Involvement of peripheral and central nervous systems in a valosin-containing protein mutation.
|
24829604 |
2014 |
rs387906789
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exome sequencing reveals VCP mutations as a cause of familial ALS.
|
21145000 |
2010 |
rs387906789
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Valosin-containing protein mutation and Parkinson's disease.
|
21816654 |
2012 |
rs387906789
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.
|
23152587 |
2012 |
rs387906789
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP.
|
22270372 |
2012 |
rs387906789
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.
|
28692196 |
2018 |
rs387906789
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|