Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.V358M

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
47 papers
NM_000046.5
p.V358M
c.1072G>A
Surrounding Variants
1 paper
NM_000046.5
p.V358L
c.1072G>T
1 paper
NM_000046.5
p.V358L
c.1072G>C
1 paper
NM_000046.5
p.T356T
c.1068A>T
1 paper
NM_000046.5
p.T356_V358del3
c.1066_1073del9
1 paper
NM_000046.5
p.L360L
c.1078C>T
1 paper
NM_000046.5
p.L360R
c.1079T>G
12 papers
NM_000046.5
p.L360P
c.1079T>C
2 papers
NM_000046.5
p.A361T
c.1081G>A
3 papers
NM_000046.5
p.W353*
c.1059G>A
1 paper
NM_000046.5
p.R362insFs
c.1085_1086insGC
3 papers
NM_000046.5
p.W353*
c.1058G>A
6 papers
NM_000046.5
p.W353R
c.1057T>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."