Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.D54N

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
2 papers
NM_001128205.2
p.D54N
c.160G>A
Surrounding Variants
1 paper
NM_001128205.2
p.D54A
c.161A>C
1 paper
NM_001128205.2
p.V55E
c.164T>A
1 paper
NM_001128205.2
p.E56delFs
c.166delG
1 paper
NM_001128205.2
p.T50A
c.148A>G
1 paper
NM_001128205.2
p.V48M
c.142G>A
1 paper
NM_001128205.2
p.I45insFs
c.133_134insA
1 paper
NM_001128205.2
p.P43P
c.129C>A
1 paper
NM_001128205.2
p.R38*
c.112C>T
1 paper
NM_001128205.2
p.Q36_R42insFs
c.106_124dup19
8 papers
NM_001128205.2
p.G32G
c.96A>G
1 paper
NM_001128205.2
p.G32*
c.94G>T
1 paper
NM_001128205.2
p.R31delFs
c.91delA
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