Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.T108I

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
3 papers
NM_001320752.2
p.T108I
c.323C>T
Surrounding Variants
1 paper
NM_001320752.2
p.T108insFs
c.322_323insGT
1 paper
NM_001320752.2
p.D109N
c.325G>A
1 paper
NM_001320752.2
p.E110V
c.329A>T
1 paper
NM_001320752.2
p.G105*
c.313G>T
1 paper
NM_001320752.2
p.T112S
c.334A>T
1 paper
NM_001320752.2
p.G104insFs
c.311_312insC
1 paper
NM_001320752.2
p.G104insFs
c.310_311insC
1 paper
NM_001320752.2
p.S103insFs
c.308_309insA
1 paper
NM_001320752.2
p.A114D
c.341C>A
1 paper
NM_001320752.2
p.L117V
c.349C>G
2 papers
NM_001320752.2
p.L117R
c.350T>G
1 paper
NM_001320752.2
p.K118_Y122delFs
c.353_365del13
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