Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.R179T

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.R179T
c.536G>C
Surrounding Variants
1 paper
NM_001320752.2
p.L180M
c.538C>A
1 paper
NM_001320752.2
p.L180L
c.538C>T
1 paper
NM_001320752.2
p.K178insFs
c.533_534insG
1 paper
NM_001320752.2
p.K178E
c.532A>G
4 papers
NM_001320752.2
p.F177_K178Fs
c.529_532delinsAGFs
1 paper
NM_001320752.2
p.P184fs
c.550_551fs
1 paper
NM_001320752.2
p.G189insFs
c.566dupG
1 paper
NM_001320752.2
p.G189R
c.565G>A
1 paper
NM_001320752.2
p.L192_L193insG
c.574_578ins3
1 paper
NM_001320752.2
p.L193del1
c.577_578delCTT
1 paper
NM_001320752.2
p.N161S
c.482A>G
1 paper
NM_001320752.2
p.A197V
c.590C>T
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