Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.D375_V376insT

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
3 papers
NM_000046.5
p.D375_V376insT
c.1123_1127ins3
Surrounding Variants
1 paper
NM_000046.5
p.D375N
c.1123G>A
3 papers
NM_000046.5
p.F374F
c.1122C>T
29 papers
NM_000046.5
p.V376M
c.1126G>A
3 papers
NM_000046.5
p.V376E
c.1127T>A
2 papers
NM_000046.5
p.W377*
c.1130G>A
1 paper
NM_000046.5
p.W377C
c.1131G>T
1 paper
NM_000046.5
p.W377C
c.1131G>C
3 papers
NM_000046.5
p.W377*
c.1131G>A
1 paper
NM_000046.5
p.D372G
c.1115A>G
1 paper
NM_000046.5
p.K378*
c.1132A>T
1 paper
NM_000046.5
p.L371L
c.1113G>T
1 paper
NM_000046.5
p.P370fs
c.1108_1109fs
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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."