Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.V143fs

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
2 papers
NM_000046.5
p.V143fs
c.427_428fs
Surrounding Variants
11 papers
NM_000046.5
p.V143delFs
c.427delC
3 papers
NM_000046.5
p.M142I
c.426G>T
3 papers
NM_000046.5
p.M142I
c.426G>C
3 papers
NM_000046.5
p.M142I
c.426G>A
1 paper
NM_000046.5
p.V143fs
c.427_428fs
21 papers
NM_000046.5
p.G144R
c.430G>C
21 papers
NM_000046.5
p.G144R
c.430G>A
4 papers
NM_000046.5
p.M142V
c.424A>G
3 papers
NM_000046.5
p.W146R
c.436T>C
3 papers
NM_000046.5
p.W146R
c.436T>A
3 papers
NM_000046.5
p.T140P
c.418A>C
3 papers
NM_000046.5
p.W146L
c.437G>T
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