rs397518452
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
Amyotrophic Lateral Sclerosis
0.010
GeneticVariation
BEFREE
In addition, hnRNPA1 carrying the D262V missense mutation that causes ALS failed to bind WT ubiquilin-2.
25616961
2015
rs483353029
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
Amyotrophic Lateral Sclerosis
0.010
GeneticVariation
BEFREE
Two novel heterozygous missense mutations in CCNF, p.S222P (c.664T>C) and p.S532R (c.1596C>T), were identified; 1 in each patient with apparently sporadic ALS .
29102476
2018
rs397518453
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
AMYOTROPHIC LATERAL SCLEROSIS 20
A
0.800
CausalMutation
CLINVAR
rs397518453
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
AMYOTROPHIC LATERAL SCLEROSIS 20
0.800
GeneticVariation
UNIPROT
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
23455423
2013
rs397518453
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
AMYOTROPHIC LATERAL SCLEROSIS 20
0.800
GeneticVariation
UNIPROT
Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS.
27694260
2016
rs397518454
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
AMYOTROPHIC LATERAL SCLEROSIS 20
0.800
GeneticVariation
UNIPROT
Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS.
27694260
2016
rs397518454
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
AMYOTROPHIC LATERAL SCLEROSIS 20
G
0.800
CausalMutation
CLINVAR
rs397518454
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
AMYOTROPHIC LATERAL SCLEROSIS 20
0.800
GeneticVariation
UNIPROT
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
23455423
2013
rs7967622
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
Frontotemporal Lobar Degeneration
0.010
GeneticVariation
BEFREE
According to these findings, hnRNP-A1 and its transcription regulatory factor miR-590-3p are disregulated in patients with AD, and the hnRNP-A1 rs7967622 C/C genotype is likely a risk factor for FTLD in male populations.
21548758
2011
rs397518452
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
0.800
GeneticVariation
UNIPROT
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
23455423
2013
rs397518452
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
T
0.800
CausalMutation
CLINVAR