Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.D381E

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.D381E
c.1143C>A
Surrounding Variants
1 paper
NM_001128205.2
p.D381E
c.1143C>G
1 paper
NM_001128205.2
p.D381V
c.1142A>T
2 papers
NM_001128205.2
p.G382D
c.1145G>A
1 paper
NM_001128205.2
p.V380V
c.1140G>T
1 paper
NM_001128205.2
p.P378S
c.1132C>T
5 papers
NM_001128205.2
p.P377L
c.1130C>T
1 paper
NM_001128205.2
p.L386R
c.1157T>G
1 paper
NM_001128205.2
p.D375Y
c.1123G>T
1 paper
NM_001128205.2
p.L374L
c.1122C>T
1 paper
NM_001128205.2
p.L389V
c.1165C>G
1 paper
NM_001128205.2
p.D390N
c.1168G>A
1 paper
NM_001128205.2
p.D390delFs
c.1170delC
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."