Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.D305delFs

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.D305delFs
c.913_914delGA
Surrounding Variants
2 papers
NM_001320752.2
p.D305N
c.913G>A
1 paper
NM_001320752.2
p.D305H
c.913G>C
1 paper
NM_001320752.2
p.D305G
c.914A>G
4 papers
NM_001320752.2
p.G304R
c.910G>A
3 papers
NM_001320752.2
p.G304R
c.910G>C
1 paper
NM_001320752.2
p.G304W
c.910G>T
1 paper
NM_001320752.2
p.G304del1
c.910_912delGGG
1 paper
NM_001320752.2
p.A306S
c.916G>T
1 paper
NM_001320752.2
p.A306_V307ins7
c.918_919ins21
1 paper
NM_001320752.2
p.V302V
c.906C>A
2 papers
NM_001320752.2
p.V307I
c.919G>A
2 papers
NM_001320752.2
p.V307L
c.919G>C
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