Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.N225Y

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.N225Y
c.673A>T
Surrounding Variants
1 paper
NM_000046.5
p.N225S
c.674A>G
8 papers
NM_000046.5
p.I223V
c.667A>G
2 papers
NM_000046.5
p.P227R
c.680C>G
1 paper
NM_000046.5
p.P227delFs
c.680delG
2 papers
NM_000046.5
p.A221delFs
c.661delC
1 paper
NM_000046.5
p.P228P
c.684A>G
1 paper
NM_000046.5
p.P228insFs
c.683_684insC
3 papers
NM_000046.5
p.I220delFs
c.659_660delTA
1 paper
NM_000046.5
p.E229V
c.686A>T
1 paper
NM_000046.5
p.I220fs
c.658_659fs
1 paper
NM_000046.5
p.I220T
c.659T>C
2 papers
NM_000046.5
p.I220V
c.658A>G
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