Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.Q304*

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.Q304*
c.910C>T
Surrounding Variants
1 paper
NM_000046.5
p.G303V
c.908G>T
7 papers
NM_000046.5
p.G303E
c.908G>A
1 paper
NM_000046.5
p.G302E
c.905G>A
1 paper
NM_000046.5
p.L306V
c.916T>G
21 papers
NM_000046.5
p.G302R
c.904G>C
21 papers
NM_000046.5
p.G302R
c.904G>A
8 papers
NM_000046.5
p.N301K
c.903C>G
8 papers
NM_000046.5
p.N301K
c.903C>A
6 papers
NM_000046.5
p.D300E
c.900T>G
6 papers
NM_000046.5
p.D300E
c.900T>A
1 paper
NM_000046.5
p.Q304_A307del0
c.911_919del9
1 paper
NM_000046.5
p.D300fs
c.898_899fs
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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."