HNRNPA1

Gene summary Variants Publications

Gene summary

Gene HNRNPA1
Gene name heterogeneous nuclear ribonucleoprotein A1
Number variants ALSoD 7
Number people with mutation ALSoD No patient data available in ALSoD
Number of papers ALSoD 3
Chromosomal location 12q13:13
Protein Heterogeneous nuclear ribonucleoprotein A1
Discovery method Linkage analysis
Hg19 start-end 54673977-54680872
Hg38 start-end 54280193-54287088
Category

Definitive ALS gene

Evidence summary

To be drafted

Review references To be added

Variants in ALSoD

Mnemonic Chromosome Position hg19 HGVS Pubmed links # publications # patients
D314N 12 54677628 NM_031157.2:c.940G>A 23455423 1 0
D314N 12 54677628 NM_031157.4:c.940G>A 23455423 1 0
G283R 7 26233225 NM_031243.3:c.847G>A 27694260 1 0
G359S 12 54678053 NM_031157.4:c.1075G>A 29650794 1 0
N319S 12 54677644 NM_031157.2:c.956A>G 23455423 1 0
P340S 12 54677706 NM_031157.4:c.1018C>T 27694260 1 0
Q277K 12 54676940 NM_031157.2:c.829C>A 27694260 1 0

Papers in ALSoD

Pubmed ID First author Year Title
23455423 Kim 2013 Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
27694260 Liu 2016 Whole-exome sequencing identies a missense mutation in hnRNPA1 in a family with flail arm ALS
29650794 Muller 2018 Comprehensive analysis of the mutation spectrum in 301 German ALS families