Gene: SPAST ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519181
rs1057519181
SPAST
0.700 GeneticVariation UNIPROT

dbSNP: rs1064793273
rs1064793273
SPAST
0.700 GeneticVariation UNIPROT

dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187

2000
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. 11809724

2002
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. 16339213

2006
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. 12202986

2002
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. 11087788

2000
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. 17594340

2007
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. 12124993

2002
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678

2001
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. 15891913

2005
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. 23279441

2013
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. 12552568

2003
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178

1999
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Spastin gene mutation in Japanese with hereditary spastic paraplegia. 12161613

2002
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 16682546

2006
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. 14732620

2004
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. 15159500

2004
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. 11843700

2002
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. 11015453

2000
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia. 11985387

2002
dbSNP: rs121908510
rs121908510
SPAST
0.800 GeneticVariation UNIPROT Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. 17594340

2007
dbSNP: rs121908510
rs121908510
SPAST
0.800 GeneticVariation UNIPROT Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. 16339213

2006
dbSNP: rs121908510
rs121908510
SPAST
0.800 GeneticVariation UNIPROT Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. 11809724

2002