Varaico: Literature-Extracted Genetic Variants

Gene:ARSI
Variant:p.C93S

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.C93S
c.277T>A
Surrounding Variants
1 paper
NM_001012301.4
p.C93S
c.278G>C
1 paper
NM_001012301.4
p.R97W
c.289C>T
1 paper
NM_001012301.4
p.A78E
c.233C>A
1 paper
NM_001012301.4
p.D75N
c.223G>A
1 paper
NM_001012301.4
p.E70K
c.208G>A
1 paper
NM_001012301.4
p.G66C
c.196G>T
1 paper
NM_001012301.4
p.H65Y
c.193C>T
1 paper
NM_001012301.4
p.S40P
c.118T>C
1 paper
NM_001012301.4
p.Q38Fs
c.114delinsCTFs
1 paper
NM_001012301.4
p.G31G
c.93G>A
1 paper
NM_001012301.4
p.S26S
c.78C>T
1 paper
NM_001012301.4
p.W22C
c.66G>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."