Varaico: Literature-Extracted Genetic Variants

Gene:ARSI
Variant:p.R339W

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
2 papers
NM_001012301.4
p.R339W
c.1015C>T
Surrounding Variants
1 paper
NM_001012301.4
p.R336*
c.1006C>T
1 paper
NM_001012301.4
p.L333V
c.997C>G
1 paper
NM_001012301.4
p.H346R
c.1037A>G
1 paper
NM_001012301.4
p.P352L
c.1055C>T
1 paper
NM_001012301.4
p.R324W
c.970C>T
1 paper
NM_001012301.4
p.V323L
c.967G>T
1 paper
NM_001012301.4
p.V323L
c.967G>C
1 paper
NM_001012301.4
p.L357Q
c.1070T>A
1 paper
NM_001012301.4
p.A358fs
c.1072_1073fs
1 paper
NM_001012301.4
p.G360fs
c.1078_1079fs
1 paper
NM_001012301.4
p.D366fs
c.1096_1097fs
1 paper
NM_001012301.4
p.P310L
c.929C>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."