Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.Q104_I105Splc

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.Q104_I105Splc
c.313-1G>T
Surrounding Variants
1 paper
NM_000046.5
p.I105V
c.313A>G
1 paper
NM_000046.5
p.I105insFs
c.314_315insAT
2 papers
NM_000046.5
p.R106C
c.316C>T
1 paper
NM_000046.5
p.Q104_I105Splc
c.313-6T>C
1 paper
NM_000046.5
p.R106P
c.317G>C
5 papers
NM_000046.5
p.R106H
c.317G>A
8 papers
NM_000046.5
p.G108V
c.323G>T
1 paper
NM_000046.5
p.G108D
c.323G>A
2 papers
NM_000046.5
p.Q110*
c.328C>T
3 papers
NM_000046.5
p.H111P
c.332A>C
5 papers
NM_000046.5
p.Q104_I105Splc
c.313-26T>C
1 paper
NM_000046.5
p.I113L
c.337A>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."