Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.H393R

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
7 papers
NM_000046.5
p.H393R
c.1178A>G
Surrounding Variants
17 papers
NM_000046.5
p.H393P
c.1178A>C
1 paper
NM_000046.5
p.L392P
c.1175T>C
1 paper
NM_000046.5
p.L392L
c.1174C>T
1 paper
NM_000046.5
p.I395V
c.1183A>G
1 paper
NM_000046.5
p.D396G
c.1187A>G
4 papers
NM_000046.5
p.E390K
c.1168G>A
1 paper
NM_000046.5
p.I389T
c.1166T>C
1 paper
NM_000046.5
p.P397L
c.1190C>T
8 papers
NM_000046.5
p.P397P
c.1191G>A
2 papers
NM_000046.5
p.R388T
c.1163G>C
1 paper
NM_000046.5
p.R388*
c.1162A>T
2 papers
NM_000046.5
p.P387_R388insFs
c.1161_1162insC
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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."