Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.P123fs

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.P123fs
c.367_368fs
Surrounding Variants
2 papers
NM_000046.5
p.Q118_V122insFs
c.352_365dup14
1 paper
NM_000046.5
p.I113_C121del9
c.337_362del27
4 papers
NM_000046.5
p.L124L
c.370C>T
2 papers
NM_000046.5
p.P116_P123del8
c.346_368del24
3 papers
NM_000046.5
p.C121R
c.361T>C
2 papers
NM_000046.5
p.G108_S120del13
c.322_359del39
1 paper
NM_000046.5
p.S120T
c.359G>C
1 paper
NM_000046.5
p.P119_S120del1
c.356_358delTGG
2 papers
NM_000046.5
p.E126*
c.376G>T
3 papers
NM_000046.5
p.D125_E126insFs
c.375_376insT
1 paper
NM_000046.5
p.S120G
c.358A>G
13 papers
NM_000046.5
p.C117R
c.349T>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."