Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.R159C

ARSB

443 papers

RefSeq Summary

Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. Th...

Pfam Domains

Sulfataseaa 45–364UCSCSulfatase

Gene Aliases

HGNC Name

arylsulfatase B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000046.5
p.R159C
c.475C>T
Surrounding Variants
1 paper
NM_000046.5
p.R159_R160insFs
c.477_478insT
22 papers
NM_000046.5
p.R160*
c.478C>T
18 papers
NM_000046.5
p.R160Q
c.479G>A
1 paper
NM_000046.5
p.G161E
c.482G>A
2 papers
NM_000046.5
p.C155Y
c.464G>A
1 paper
NM_000046.5
p.D163A
c.488A>C
1 paper
NM_000046.5
p.E154*
c.460G>T
1 paper
NM_000046.5
p.R152_K153del0
c.454_459del6
3 papers
NM_000046.5
p.G149_R152delFs
c.447_456del10
2 papers
NM_000046.5
p.D163_T164del1
c.489_491delGTA
1 paper
NM_000046.5
p.T164del1
c.490_491delGGT
1 paper
NM_000046.5
p.R152Q
c.455G>A
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