Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.V382delFs

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.V382delFs
c.1146delG
Surrounding Variants
1 paper
NM_001320752.2
p.W379C
c.1137G>C
1 paper
NM_001320752.2
p.D390delFs
c.1168_1169delGA
1 paper
NM_001320752.2
p.D390E
c.1170T>A
2 papers
NM_001320752.2
p.R372R
c.1116G>A
4 papers
NM_001320752.2
p.R372P
c.1115G>C
1 paper
NM_001320752.2
p.G370D
c.1109G>A
1 paper
NM_001320752.2
p.G370A
c.1109G>C
1 paper
NM_001320752.2
p.G370S
c.1108G>A
1 paper
NM_001320752.2
p.N395S
c.1184A>G
1 paper
NM_001320752.2
p.E368delFs
c.1103delA
1 paper
NM_001320752.2
p.W367S
c.1100G>C
1 paper
NM_001320752.2
p.K363N
c.1089A>C
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