Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.L483P

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
4 papers
NM_001128205.2
p.L483P
c.1448T>C
Surrounding Variants
1 paper
NM_001128205.2
p.L483R
c.1448T>G
1 paper
NM_001128205.2
p.T484A
c.1450A>G
1 paper
NM_001128205.2
p.V485G
c.1454T>G
1 paper
NM_001128205.2
p.G478R
c.1432G>A
1 paper
NM_001128205.2
p.G478R
c.1432G>C
1 paper
NM_001128205.2
p.T489M
c.1466C>T
1 paper
NM_001128205.2
p.C476_K477insFs
c.1428_1429insC
1 paper
NM_001128205.2
p.C476R
c.1426T>C
1 paper
NM_001128205.2
p.R472Q
c.1415G>A
1 paper
NM_001128205.2
p.R495G
c.1483C>G
1 paper
NM_001128205.2
p.R495H
c.1484G>A
1 paper
NM_001128205.2
p.G496D
c.1487G>A
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