Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.T182R

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.T182R
c.545C>G
Surrounding Variants
1 paper
NM_000046.5
p.Y175_C181del0
c.523_543del21
1 paper
NM_000046.5
p.I184V
c.550A>G
1 paper
NM_000046.5
p.I184delFs
c.550delT
1 paper
NM_000046.5
p.R180H
c.539G>A
1 paper
NM_000046.5
p.E179K
c.535G>A
16 papers
NM_000046.5
p.H178L
c.533A>T
4 papers
NM_000046.5
p.H178R
c.533A>G
2 papers
NM_000046.5
p.H178D
c.532C>G
2 papers
NM_000046.5
p.H178N
c.532C>A
1 paper
NM_000046.5
p.N188S
c.563A>G
1 paper
NM_000046.5
p.Y175insFs
c.525dupT
1 paper
NM_000046.5
p.L183_N188delFs
c.549_562del14
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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."