Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.D409H

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.D409H
c.1225G>C
Surrounding Variants
1 paper
NM_001128205.2
p.D409G
c.1226A>G
2 papers
NM_001128205.2
p.D409V
c.1226A>T
1 paper
NM_001128205.2
p.I406_W407delins
c.1218_1220delinsTAT
1 paper
NM_001128205.2
p.I406_D409del0
c.1217_1225del9
1 paper
NM_001128205.2
p.I406_R408del3
c.1216_1223del9
1 paper
NM_001128205.2
p.K405_R408del0
c.1215_1223del9
1 paper
NM_001128205.2
p.K402fs
c.1204_1205fs
1 paper
NM_001128205.2
p.T400T
c.1200A>G
1 paper
NM_001128205.2
p.R399*
c.1195C>T
2 papers
NM_001128205.2
p.R397R
c.1191G>A
1 paper
NM_001128205.2
p.R397_F398insFs
c.1191_1192insC
1 paper
NM_001128205.2
p.R397Splc
c.1190+2T>C
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