Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.D195E

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.D195E
c.585T>A
Surrounding Variants
2 papers
NM_000046.5
p.D195E
c.585T>G
8 papers
NM_000046.5
p.R197*
c.589C>T
1 paper
NM_000046.5
p.R197Q
c.590G>A
1 paper
NM_000046.5
p.D198N
c.592G>A
21 papers
NM_000046.5
p.C192R
c.574T>C
1 paper
NM_000046.5
p.E200K
c.598G>A
10 papers
NM_000046.5
p.R191*
c.571C>T
1 paper
NM_000046.5
p.L183_N188delFs
c.549_562del14
1 paper
NM_000046.5
p.N188S
c.563A>G
1 paper
NM_000046.5
p.G199_A203delFs
c.595_607del13
1 paper
NM_000046.5
p.Y206D
c.616T>G
1 paper
NM_000046.5
p.I184delFs
c.550delT
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