Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.A136T

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.A136T
c.406G>A
Surrounding Variants
1 paper
NM_000046.5
p.E135*
c.403G>T
13 papers
NM_000046.5
p.G137V
c.410G>T
3 papers
NM_000046.5
p.Y138C
c.413A>G
5 papers
NM_000046.5
p.L132P
c.395T>C
3 papers
NM_000046.5
p.T140P
c.418A>C
4 papers
NM_000046.5
p.P130L
c.389C>T
2 papers
NM_000046.5
p.L129del1
c.385_386delCAG
4 papers
NM_000046.5
p.M142V
c.424A>G
3 papers
NM_000046.5
p.L128del1
c.382_383delGAG
1 paper
NM_000046.5
p.L129P
c.386T>C
3 papers
NM_000046.5
p.M142I
c.426G>T
3 papers
NM_000046.5
p.M142I
c.426G>C
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