Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.M250V

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.M250V
c.748A>G
Surrounding Variants
1 paper
NM_001320752.2
p.D253_N254del2
c.757_761del6
1 paper
NM_001320752.2
p.Y252S
c.755A>C
1 paper
NM_001320752.2
p.I246N
c.737T>A
1 paper
NM_001320752.2
p.E244D
c.732G>C
1 paper
NM_001320752.2
p.E244D
c.732G>T
1 paper
NM_001320752.2
p.E244K
c.730G>A
3 papers
NM_001320752.2
p.R258W
c.772A>T
1 paper
NM_001320752.2
p.L259L
c.775C>T
1 paper
NM_001320752.2
p.L259P
c.776T>C
1 paper
NM_001320752.2
p.V261M
c.781G>A
1 paper
NM_001320752.2
p.N236T
c.707A>C
1 paper
NM_001320752.2
p.L235L
c.703C>T
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