Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.R152W

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
47 papers
NM_000046.5
p.R152W
c.454C>T
Surrounding Variants
1 paper
NM_000046.5
p.R152Q
c.455G>A
3 papers
NM_000046.5
p.G149_R152delFs
c.447_456del10
1 paper
NM_000046.5
p.E154*
c.460G>T
1 paper
NM_000046.5
p.R152_K153del0
c.454_459del6
1 paper
NM_000046.5
p.G149fs
c.445_446fs
2 papers
NM_000046.5
p.C155Y
c.464G>A
1 paper
NM_000046.5
p.L148L
c.442C>T
1 paper
NM_000046.5
p.H147Q
c.441C>A
1 paper
NM_000046.5
p.H147L
c.440A>T
3 papers
NM_000046.5
p.H147P
c.440A>C
1 paper
NM_000046.5
p.W146delFs
c.438delC
12 papers
NM_000046.5
p.W146*
c.438G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."