Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.G167Splc

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
2 papers
NM_000046.5
p.G167Splc
c.499+1G>A
Surrounding Variants
2 papers
NM_000046.5
p.G167R
c.499G>A
3 papers
NM_000046.5
p.F166delFs
c.496delA
1 paper
NM_000046.5
p.F166fs
c.496_497fs
1 paper
NM_000046.5
p.F166_G167insFs
c.498_499insCA
2 papers
NM_000046.5
p.F166L
c.498T>G
2 papers
NM_000046.5
p.F166L
c.498T>A
2 papers
NM_000046.5
p.F166L
c.496T>C
2 papers
NM_000046.5
p.F166fs
c.496_497fs
1 paper
NM_000046.5
p.T164del1
c.490_491delGGT
2 papers
NM_000046.5
p.D163_T164del1
c.489_491delGTA
1 paper
NM_000046.5
p.G167Splc
c.499+9A>G
1 paper
NM_000046.5
p.D163A
c.488A>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."