Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.V329fs

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.V329fs
c.985_986fs
Surrounding Variants
1 paper
NM_000046.5
p.V329delFs
c.985delC
2 papers
NM_000046.5
p.G328R
c.982G>C
2 papers
NM_000046.5
p.G328R
c.982G>A
22 papers
NM_000046.5
p.R327*
c.979C>T
1 paper
NM_000046.5
p.F331fs
c.991_992fs
5 papers
NM_000046.5
p.V332G
c.995T>G
1 paper
NM_000046.5
p.G325D
c.974G>A
7 papers
NM_000046.5
p.G324G
c.972A>G
10 papers
NM_000046.5
p.G324V
c.971G>T
3 papers
NM_000046.5
p.S334I
c.1001G>T
1 paper
NM_000046.5
p.E323*
c.967G>T
2 papers
NM_000046.5
p.W322C
c.966G>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."