Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.S367T

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_001320751.2
p.S367T
c.1100G>C
Surrounding Variants
1 paper
NM_001320752.2
p.G357V
c.1070G>T
1 paper
NM_001320752.2
p.Y359C
c.1076A>G
3 papers
NM_001320752.2
p.E344K
c.1030G>A
1 paper
NM_001320752.2
p.E344*
c.1030G>T
1 paper
NM_001320752.2
p.A340T
c.1018G>A
1 paper
NM_001320752.2
p.L321L
c.961C>T
1 paper
NM_001320752.2
p.L318*
c.953T>A
1 paper
NM_001320752.2
p.L318insFs
c.952dupT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."