Gene: UBQLN2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906711
rs387906711
UBQLN2
0.030 GeneticVariation BEFREE Here, we demonstrate that ALS/FTD UBQLN2 mutants P497H and P506T inhibit protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus in neuronal cells. 31802140

2019
dbSNP: rs387906711
rs387906711
UBQLN2
0.030 GeneticVariation BEFREE Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%). 30348461

2019
dbSNP: rs387906711
rs387906711
UBQLN2
0.030 GeneticVariation BEFREE Additionally, the P506S mutation can also cause an FTD phenotype. 23944734

2013
dbSNP: rs387906709
rs387906709
UBQLN2
0.020 GeneticVariation BEFREE Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%). 30348461

2019
dbSNP: rs387906709
rs387906709
UBQLN2
0.020 GeneticVariation BEFREE Here, we demonstrate that ALS/FTD UBQLN2 mutants P497H and P506T inhibit protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus in neuronal cells. 31802140

2019