Varaico: Literature-Extracted Genetic Variants

Gene:ARSI
Variant:p.S217R

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
3 papers
NM_001012301.4
p.S217R
c.651C>A
Surrounding Variants
2 papers
NM_001012301.4
p.S217R
c.651C>G
2 papers
NM_001012301.4
p.S217R
c.649A>C
1 paper
NM_001012301.4
p.R215H
c.644G>A
1 paper
NM_001012301.4
p.Y212Y
c.636T>C
1 paper
NM_001012301.4
p.V238I
c.712G>A
1 paper
NM_001012301.4
p.E195K
c.583G>A
1 paper
NM_001012301.4
p.V188M
c.562G>A
1 paper
NM_001012301.4
p.G187G
c.561C>A
1 paper
NM_001012301.4
p.A259T
c.775G>A
3 papers
NM_001012301.4
p.R260Q
c.779G>A
1 paper
NM_001012301.4
p.G169delFs
c.507delG
1 paper
NM_001012301.4
p.A273V
c.818C>T
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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."