Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.W146delFs

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.W146delFs
c.438delC
Surrounding Variants
12 papers
NM_000046.5
p.W146*
c.438G>A
1 paper
NM_000046.5
p.H147L
c.440A>T
3 papers
NM_000046.5
p.H147P
c.440A>C
3 papers
NM_000046.5
p.W146L
c.437G>T
4 papers
NM_000046.5
p.W146S
c.437G>C
13 papers
NM_000046.5
p.W146*
c.437G>A
1 paper
NM_000046.5
p.H147Q
c.441C>A
3 papers
NM_000046.5
p.W146R
c.436T>C
3 papers
NM_000046.5
p.W146R
c.436T>A
1 paper
NM_000046.5
p.L148L
c.442C>T
1 paper
NM_000046.5
p.G149fs
c.445_446fs
21 papers
NM_000046.5
p.G144R
c.430G>C
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