Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.G325R

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.G325R
c.973G>C
Surrounding Variants
1 paper
NM_001128205.2
p.G325R
c.973G>A
1 paper
NM_001128205.2
p.L326L
c.978G>A
1 paper
NM_001128205.2
p.G322E
c.965G>A
1 paper
NM_001128205.2
p.G322R
c.964G>A
2 papers
NM_001128205.2
p.G322W
c.964G>T
1 paper
NM_001128205.2
p.G329delFs
c.986delG
6 papers
NM_001128205.2
p.I321T
c.962T>C
1 paper
NM_001128205.2
p.G329R
c.985G>A
1 paper
NM_001128205.2
p.G329insFs
c.985_986insAC
1 paper
NM_001128205.2
p.G329fs
c.985_986fs
1 paper
NM_001128205.2
p.Y319C
c.956A>G
3 papers
NM_001128205.2
p.M332R
c.995T>G
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