Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.D125_E126insFs

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.D125_E126insFs
c.375_376insT
Surrounding Variants
2 papers
NM_000046.5
p.E126*
c.376G>T
2 papers
NM_000046.5
p.P116_P123del8
c.346_368del24
4 papers
NM_000046.5
p.L124L
c.370C>T
3 papers
NM_000046.5
p.P123fs
c.367_368fs
1 paper
NM_000046.5
p.L129fs
c.385_386fs
2 papers
NM_000046.5
p.Q118_V122insFs
c.352_365dup14
1 paper
NM_000046.5
p.L129P
c.386T>C
3 papers
NM_000046.5
p.L128del1
c.382_383delGAG
1 paper
NM_000046.5
p.I113_C121del9
c.337_362del27
4 papers
NM_000046.5
p.P130L
c.389C>T
2 papers
NM_000046.5
p.L129del1
c.385_386delCAG
3 papers
NM_000046.5
p.C121R
c.361T>C
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