Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.Y206D

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.Y206D
c.616T>G
Surrounding Variants
1 paper
NM_000046.5
p.G199_A203delFs
c.595_607del13
1 paper
NM_000046.5
p.M209V
c.625A>G
41 papers
NM_000046.5
p.Y210C
c.629A>G
1 paper
NM_000046.5
p.Y210*
c.630T>G
1 paper
NM_000046.5
p.Y210*
c.630T>A
1 paper
NM_000046.5
p.E200K
c.598G>A
4 papers
NM_000046.5
p.T212I
c.635C>T
1 paper
NM_000046.5
p.N213Y
c.637A>T
2 papers
NM_000046.5
p.Y210_T212delFs
c.629_635del7
1 paper
NM_000046.5
p.D198N
c.592G>A
1 paper
NM_000046.5
p.R197Q
c.590G>A
8 papers
NM_000046.5
p.R197*
c.589C>T
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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."