Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.C143S

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
2 papers
NM_001320752.2
p.C143S
c.427T>A
Surrounding Variants
1 paper
NM_001320752.2
p.C143S
c.428G>C
1 paper
NM_001320752.2
p.D141H
c.421G>C
1 paper
NM_001320752.2
p.D141_F142insC
c.421_425ins3
1 paper
NM_001320752.2
p.P146A
c.436C>G
1 paper
NM_001320752.2
p.K139R
c.416A>G
1 paper
NM_001320752.2
p.L147delFs
c.441delA
1 paper
NM_001320752.2
p.M134L
c.400A>T
1 paper
NM_001320752.2
p.Y153*
c.459T>A
1 paper
NM_001320752.2
p.Y153*
c.459T>G
1 paper
NM_001320752.2
p.N161S
c.482A>G
4 papers
NM_001320752.2
p.F177_K178Fs
c.529_532delinsAGFs
1 paper
NM_001320752.2
p.K178E
c.532A>G
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