Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.N298K

SULF1

436 papers

RefSeq Summary

This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The en...

Pfam Domains

Sulfataseaa 43–374UCSCSulfatase
DUF3740aa 534–679UCSCSulfatase protein
DUF3740aa 680–743UCSCSulfatase protein

Gene Aliases

HGNC Name

sulfatase 1

HGNC Alias Symbols

KIAA1077; SULF-1; hSulf-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128205.2
p.N298K
c.894C>G
Surrounding Variants
1 paper
NM_001128205.2
p.N298K
c.894C>A
1 paper
NM_001128205.2
p.M299insFs
c.896_897insC
1 paper
NM_001128205.2
p.V301M
c.901G>A
1 paper
NM_001128205.2
p.E302K
c.904G>A
1 paper
NM_001128205.2
p.E302_T303insG
c.904_908ins3
1 paper
NM_001128205.2
p.T303R
c.908C>G
1 paper
NM_001128205.2
p.T303T
c.909G>A
1 paper
NM_001128205.2
p.E305V
c.914A>T
2 papers
NM_001128205.2
p.E307K
c.919G>A
1 paper
NM_001128205.2
p.Y319C
c.956A>G
6 papers
NM_001128205.2
p.I321T
c.962T>C
1 paper
NM_001128205.2
p.G322R
c.964G>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."