Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.F399L

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
14 papers
NM_000046.5
p.F399L
c.1197C>G
Surrounding Variants
14 papers
NM_000046.5
p.F399L
c.1197C>A
14 papers
NM_000046.5
p.F399L
c.1195T>C
8 papers
NM_000046.5
p.P397P
c.1191G>A
1 paper
NM_000046.5
p.P397L
c.1190C>T
1 paper
NM_000046.5
p.D396G
c.1187A>G
3 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
1 paper
NM_000046.5
p.S403insFs
c.1208dupC
2 papers
NM_000046.5
p.S403fs
c.1207_1208fs
6 papers
NM_000046.5
p.S403delFs
c.1208delG
1 paper
NM_000046.5
p.I395V
c.1183A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."