Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.A365insFs

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.A365insFs
c.1093_1094insG
Surrounding Variants
1 paper
NM_001128205.2
p.L364F
c.1092G>C
1 paper
NM_001128205.2
p.L364F
c.1092G>T
1 paper
NM_001128205.2
p.A365V
c.1094C>T
1 paper
NM_001128205.2
p.L360P
c.1079T>C
2 papers
NM_001128205.2
p.L360R
c.1079T>G
2 papers
NM_001128205.2
p.I371V
c.1111A>G
1 paper
NM_001128205.2
p.Q357H
c.1071G>C
1 paper
NM_001128205.2
p.Q357H
c.1071G>T
1 paper
NM_001128205.2
p.Q357*
c.1069C>T
1 paper
NM_001128205.2
p.G373R
c.1117G>A
1 paper
NM_001128205.2
p.G373R
c.1117G>C
1 paper
NM_001128205.2
p.L374L
c.1122C>T
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