Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.I220V

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
2 papers
NM_000046.5
p.I220V
c.658A>G
Surrounding Variants
2 papers
NM_000046.5
p.I220fs
c.658_659fs
1 paper
NM_000046.5
p.I220T
c.659T>C
1 paper
NM_000046.5
p.I220fs
c.658_659fs
1 paper
NM_000046.5
p.A219S
c.655G>T
3 papers
NM_000046.5
p.I220delFs
c.659_660delTA
2 papers
NM_000046.5
p.A221delFs
c.661delC
8 papers
NM_000046.5
p.I223V
c.667A>G
1 paper
NM_000046.5
p.K217E
c.649A>G
1 paper
NM_000046.5
p.N208_F215del8
c.622_644del24
1 paper
NM_000046.5
p.S211_I214del4
c.631_641del12
1 paper
NM_000046.5
p.N225Y
c.673A>T
1 paper
NM_000046.5
p.N225S
c.674A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."