Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.T47_P48insFs

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_001320752.2
p.T47_P48insFs
c.141_142insC
Surrounding Variants
1 paper
NM_001320752.2
p.I50V
c.148A>G
1 paper
NM_001320752.2
p.D51N
c.151G>A
4 papers
NM_001320752.2
p.D51A
c.152A>C
1 paper
NM_001320752.2
p.D51E
c.153C>A
1 paper
NM_001320752.2
p.D51E
c.153C>G
1 paper
NM_001320752.2
p.R52G
c.154C>G
2 papers
NM_001320752.2
p.R52Q
c.155G>A
1 paper
NM_001320752.2
p.L53*
c.158T>A
1 paper
NM_001320752.2
p.A54T
c.160G>A
1 paper
NM_001320752.2
p.S55delFs
c.163delA
1 paper
NM_001320752.2
p.V58V
c.174G>C
1 paper
NM_001320752.2
p.K59insFs
c.175dupA
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