Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.L7Fs

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.L7Fs
c.21delinsCTFs
Surrounding Variants
1 paper
NM_001320752.2
p.L8M
c.22C>A
1 paper
NM_001320752.2
p.L8V
c.22C>G
1 paper
NM_001320752.2
p.P4H
c.11C>A
1 paper
NM_001320752.2
p.W12*
c.35G>A
1 paper
NM_001320752.2
p.W12L
c.35G>T
1 paper
NM_001320752.2
p.K2_I3insFs
c.6_7insA
1 paper
NM_001320752.2
p.E13K
c.37G>A
5 papers
NM_001320752.2
p.E13A
c.38A>C
1 paper
NM_001320752.2
p.K2Q
c.4A>C
1 paper
NM_001320752.2
p.E13E
c.39A>G
1 paper
NM_001320752.2
p.M1I
c.3G>C
1 paper
NM_001320752.2
p.M1I
c.3G>T
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