Varaico: Literature-Extracted Genetic Variants

Gene:STS
Variant:p.D119N

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.D119N
c.355G>A
Surrounding Variants
1 paper
NM_001320752.2
p.K118_Y122delFs
c.353_365del13
2 papers
NM_001320752.2
p.L117R
c.350T>G
1 paper
NM_001320752.2
p.L117V
c.349C>G
1 paper
NM_001320752.2
p.G121R
c.361G>C
1 paper
NM_001320752.2
p.G121_Y122delins
c.363_365delinsTCT
1 paper
NM_001320752.2
p.A114D
c.341C>A
1 paper
NM_001320752.2
p.T112S
c.334A>T
1 paper
NM_001320752.2
p.L126Q
c.377T>A
1 paper
NM_001320752.2
p.E110V
c.329A>T
1 paper
NM_001320752.2
p.D109N
c.325G>A
3 papers
NM_001320752.2
p.T108I
c.323C>T
1 paper
NM_001320752.2
p.G128Splc
c.382+5G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."