Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.G167fs

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
1 paper
NM_000046.5
p.G167fs
c.499_500fs
Surrounding Variants
4 papers
NM_000046.5
p.G167R
c.499G>C
4 papers
NM_000046.5
p.G167R
c.499G>A
1 paper
NM_000046.5
p.L169I
c.505C>A
5 papers
NM_000046.5
p.L169_L170insFs
c.507_508insC
2 papers
NM_000046.5
p.L170R
c.509T>G
4 papers
NM_000046.5
p.G171S
c.511G>A
3 papers
NM_000046.5
p.G171D
c.512G>A
3 papers
NM_000046.5
p.Y175D
c.523T>G
1 paper
NM_000046.5
p.Y175H
c.523T>C
1 paper
NM_000046.5
p.Y175insFs
c.525dupT
2 papers
NM_000046.5
p.H178D
c.532C>G
2 papers
NM_000046.5
p.H178N
c.532C>A
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