Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.Q279E

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
3 papers
NM_001128205.2
p.Q279E
c.835C>G
Surrounding Variants
1 paper
NM_001128205.2
p.Q279R
c.836A>G
1 paper
NM_001128205.2
p.L283P
c.848T>C
1 paper
NM_001128205.2
p.Q284*
c.850C>T
1 paper
NM_001128205.2
p.Q284R
c.851A>G
1 paper
NM_001128205.2
p.M272T
c.815T>C
1 paper
NM_001128205.2
p.L286V
c.856T>G
1 paper
NM_001128205.2
p.I270V
c.808A>G
1 paper
NM_001128205.2
p.I270F
c.808A>T
1 paper
NM_001128205.2
p.S288L
c.863C>T
1 paper
NM_001128205.2
p.L268M
c.802C>A
1 paper
NM_001128205.2
p.M267I
c.801G>A
1 paper
NM_001128205.2
p.M267I
c.801G>T
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