Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.L576M

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.L576M
c.1726C>A
Surrounding Variants
1 paper
NM_001320752.2
p.S577T
c.1730G>C
1 paper
NM_001320752.2
p.R578C
c.1732C>T
2 papers
NM_001320752.2
p.E570G
c.1709A>G
1 paper
NM_001320752.2
p.E570Q
c.1708G>C
1 paper
NM_001320752.2
p.L563_S564delFs
c.1689_1690delGT
1 paper
NM_001320752.2
p.T561T
c.1683C>T
1 paper
NM_001320752.2
p.V539M
c.1615G>A
1 paper
NM_001320752.2
p.T533_Q534insG
c.1597_1601ins3
1 paper
NM_001320752.2
p.D530N
c.1588G>A
1 paper
NM_001320752.2
p.E527V
c.1580A>T
4 papers
NM_001320752.2
p.E527K
c.1579G>A
2 papers
NM_001320752.2
p.Q526Q
c.1578G>A
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