Varaico: Literature-Extracted Genetic Variants

Gene:ARSI
Variant:p.E533Q

ARSI

84 papers

RefSeq Summary

This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormo...

Pfam Domains

Sulfataseaa 47–360UCSCSulfatase

Gene Aliases

HGNC Name

arylsulfatase family member I

HGNC Alias Symbols

FLJ16069; SPG66

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001012301.4
p.E533Q
c.1597G>C
Surrounding Variants
1 paper
NM_001012301.4
p.G534R
c.1600G>C
1 paper
NM_001012301.4
p.G534R
c.1600G>A
2 papers
NM_001012301.4
p.A536P
c.1606G>C
1 paper
NM_001012301.4
p.R537*
c.1609C>T
1 paper
NM_001012301.4
p.A524D
c.1571C>A
1 paper
NM_001012301.4
p.K547insFs
c.1641dupA
1 paper
NM_001012301.4
p.D514N
c.1540G>A
1 paper
NM_001012301.4
p.L560F
c.1678C>T
1 paper
NM_001012301.4
p.R568W
c.1702C>T
1 paper
NM_001012301.4
p.R568Q
c.1703G>A
1 paper
NM_001012301.4
p.R486C
c.1456C>T
1 paper
NM_001012301.4
p.E473A
c.1418A>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."