Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.M422T

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.M422T
c.1265T>C
Surrounding Variants
1 paper
NM_001320752.2
p.L421L
c.1261C>T
1 paper
NM_001320752.2
p.L424V
c.1270C>G
1 paper
NM_001320752.2
p.R419fs
c.1255_1256fs
2 papers
NM_001320752.2
p.R419fs
c.1255_1256fs
1 paper
NM_001320752.2
p.D417insFs
c.1249_1250insG
1 paper
NM_001320752.2
p.F436insFs
c.1306_1307insC
1 paper
NM_001320752.2
p.F438L
c.1314C>A
1 paper
NM_001320752.2
p.Y440insFs
c.1319dupA
3 papers
NM_001320752.2
p.Y444C
c.1331A>G
1 paper
NM_001320752.2
p.Y444F
c.1331A>T
1 paper
NM_001320752.2
p.R449R
c.1347C>A
1 paper
NM_001320752.2
p.L405insFs
c.1214_1215insTC
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