Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.E228insFs

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.E228insFs
c.683_684insC
Surrounding Variants
2 papers
NM_001128205.2
p.P227R
c.680C>G
1 paper
NM_001128205.2
p.P227S
c.679C>T
1 paper
NM_001128205.2
p.G226S
c.676G>A
1 paper
NM_001128205.2
p.A231G
c.692C>G
1 paper
NM_001128205.2
p.P232A
c.694C>G
1 paper
NM_001128205.2
p.A223V
c.668C>T
2 papers
NM_001128205.2
p.A222T
c.664G>A
1 paper
NM_001128205.2
p.I219L
c.655A>C
1 paper
NM_001128205.2
p.I219F
c.655A>T
1 paper
NM_001128205.2
p.Y238*
c.714C>G
2 papers
NM_001128205.2
p.P239S
c.715C>T
1 paper
NM_001128205.2
p.M217insFs
c.650_651insC
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