Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.T465I

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.T465I
c.1394C>T
Surrounding Variants
3 papers
NM_001320752.2
p.T465A
c.1393A>G
1 paper
NM_001320752.2
p.V471A
c.1412T>C
1 paper
NM_001320752.2
p.C482insFs
c.1446dupC
1 paper
NM_001320752.2
p.F485S
c.1454T>C
1 paper
NM_001320752.2
p.S487C
c.1459A>T
1 paper
NM_001320752.2
p.P504S
c.1510C>T
1 paper
NM_001320752.2
p.R505R
c.1513A>C
1 paper
NM_001320752.2
p.P509L
c.1526C>T
2 papers
NM_001320752.2
p.Q526Q
c.1578G>A
4 papers
NM_001320752.2
p.E527K
c.1579G>A
1 paper
NM_001320752.2
p.E527V
c.1580A>T
1 paper
NM_001320752.2
p.D530N
c.1588G>A
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