Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.L337P

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.L337P
c.1010T>C
Surrounding Variants
3 papers
NM_000046.5
p.G330_P335delFs
c.990_1003del14
3 papers
NM_000046.5
p.S334I
c.1001G>T
1 paper
NM_000046.5
p.K340R
c.1019A>G
1 paper
NM_000046.5
p.V342M
c.1024G>A
5 papers
NM_000046.5
p.V332G
c.995T>G
1 paper
NM_000046.5
p.F331fs
c.991_992fs
3 papers
NM_000046.5
p.K343M
c.1028A>T
3 papers
NM_000046.5
p.N344K
c.1032C>G
3 papers
NM_000046.5
p.N344K
c.1032C>A
2 papers
NM_000046.5
p.R345W
c.1033C>T
1 paper
NM_000046.5
p.V329delFs
c.985delC
1 paper
NM_000046.5
p.V329fs
c.985_986fs
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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."