Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.R86W

STS

375 papers

RefSeq Summary

This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as...

Pfam Domains

Sulfataseaa 22–408UCSCSulfatase
Sulfatase_Caa 432–567UCSCC-terminal region of aryl-sulfatase

Gene Aliases

HGNC Name

steroid sulfatase

HGNC Previous Symbol

ARSC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001320751.2
p.R86W
c.256A>T
Surrounding Variants
1 paper
NM_001320752.2
p.P72R
c.215C>G
1 paper
NM_001320752.2
p.A76A
c.228C>T
1 paper
NM_001320752.2
p.C70Y
c.209G>A
1 paper
NM_001320752.2
p.C70S
c.209G>C
1 paper
NM_001320752.2
p.C70S
c.208T>A
1 paper
NM_001320752.2
p.C70fs
c.208_209fs
1 paper
NM_001320752.2
p.P68P
c.204G>A
1 paper
NM_001320752.2
p.L69delFs
c.205_206delCT
1 paper
NM_001320752.2
p.G80R
c.238G>C
1 paper
NM_001320752.2
p.A66G
c.197C>G
2 papers
NM_001320752.2
p.A66V
c.197C>T
1 paper
NM_001320752.2
p.A65V
c.194C>T
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