Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.S386S

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.S386S
c.1158C>T
Surrounding Variants
1 paper
NM_000046.5
p.S386F
c.1157C>T
2 papers
NM_000046.5
p.S384_S386del3
c.1150_1157del9
1 paper
NM_000046.5
p.P385L
c.1154C>T
1 paper
NM_000046.5
p.R388*
c.1162A>T
2 papers
NM_000046.5
p.P387_R388insFs
c.1161_1162insC
1 paper
NM_000046.5
p.R388fs
c.1162_1163fs
2 papers
NM_000046.5
p.R388T
c.1163G>C
35 papers
NM_000046.5
p.S384N
c.1151G>A
1 paper
NM_000046.5
p.I389T
c.1166T>C
4 papers
NM_000046.5
p.E390K
c.1168G>A
1 paper
NM_000046.5
p.G383E
c.1148G>A
1 paper
NM_000046.5
p.S381Splc
c.1143-1G>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."