Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.R315*

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
23 papers
NM_000046.5
p.R315*
c.943C>T
Surrounding Variants
1 paper
NM_000046.5
p.R315G
c.943C>G
2 papers
NM_000046.5
p.R315L
c.944G>T
4 papers
NM_000046.5
p.R315P
c.944G>C
32 papers
NM_000046.5
p.R315Q
c.944G>A
4 papers
NM_000046.5
p.L314P
c.941T>C
2 papers
NM_000046.5
p.L314delFs
c.940delG
1 paper
NM_000046.5
p.L314F
c.940C>T
1 paper
NM_000046.5
p.L314_R315insAT
c.940_944ins6
4 papers
NM_000046.5
p.P313S
c.937C>T
12 papers
NM_000046.5
p.P313A
c.937C>G
4 papers
NM_000046.5
p.W312C
c.936G>T
4 papers
NM_000046.5
p.W312C
c.936G>C
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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."