Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.I114I

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.I114I
c.342C>T
Surrounding Variants
1 paper
NM_000046.5
p.W115L
c.344G>T
5 papers
NM_000046.5
p.P116H
c.347C>A
1 paper
NM_000046.5
p.I113L
c.337A>T
13 papers
NM_000046.5
p.C117R
c.349T>C
1 paper
NM_000046.5
p.P116delFs
c.348delG
3 papers
NM_000046.5
p.H111P
c.332A>C
2 papers
NM_000046.5
p.Q110*
c.328C>T
1 paper
NM_000046.5
p.S120G
c.358A>G
1 paper
NM_000046.5
p.S120T
c.359G>C
1 paper
NM_000046.5
p.P119_S120del1
c.356_358delTGG
3 papers
NM_000046.5
p.C121R
c.361T>C
2 papers
NM_000046.5
p.G108_S120del13
c.322_359del39
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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."