Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.A19A

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.A19A
c.57A>T
Surrounding Variants
1 paper
NM_001320752.2
p.A19_S20insFs
c.57_58insGC
1 paper
NM_001320752.2
p.A19_S20insFs
c.57_58insGT
1 paper
NM_001320752.2
p.A18A
c.54A>T
1 paper
NM_001320752.2
p.S16T
c.47G>C
1 paper
NM_001320752.2
p.E15*
c.43G>T
1 paper
NM_001320752.2
p.I24T
c.71T>C
1 paper
NM_001320752.2
p.E13E
c.39A>G
5 papers
NM_001320752.2
p.E13A
c.38A>C
1 paper
NM_001320752.2
p.E13K
c.37G>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.D30N
c.88G>A
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