Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.N344K

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.N344K
c.1032C>G
Surrounding Variants
3 papers
NM_000046.5
p.N344K
c.1032C>A
2 papers
NM_000046.5
p.R345W
c.1033C>T
5 papers
NM_000046.5
p.E346fs
c.1036_1037fs
3 papers
NM_000046.5
p.K343M
c.1028A>T
4 papers
NM_000046.5
p.E346delFs
c.1036delC
2 papers
NM_000046.5
p.E346fs
c.1036_1037fs
1 paper
NM_000046.5
p.V342M
c.1024G>A
1 paper
NM_000046.5
p.L347insFs
c.1040_1041insT
1 paper
NM_000046.5
p.K340R
c.1019A>G
3 papers
NM_000046.5
p.I350F
c.1048A>T
2 papers
NM_000046.5
p.S351F
c.1052C>T
2 papers
NM_000046.5
p.L337P
c.1010T>C
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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."