Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.S403delFs

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
6 papers
NM_000046.5
p.S403delFs
c.1208delG
Surrounding Variants
1 paper
NM_000046.5
p.S403insFs
c.1208dupC
2 papers
NM_000046.5
p.S403fs
c.1207_1208fs
3 papers
NM_000046.5
p.S403*
c.1208C>G
3 papers
NM_000046.5
p.S403*
c.1208C>A
3 papers
NM_000046.5
p.S403fs
c.1207_1208fs
2 papers
NM_000046.5
p.C405Splc
c.1213+1G>A
2 papers
NM_000046.5
p.C405Splc
c.1213+5G>T
6 papers
NM_000046.5
p.C405Splc
c.1213+5G>A
6 papers
NM_000046.5
p.C405Splc
c.1213+6T>C
14 papers
NM_000046.5
p.F399L
c.1197C>G
14 papers
NM_000046.5
p.F399L
c.1197C>A
14 papers
NM_000046.5
p.F399L
c.1195T>C
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