Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.E455insFs

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.E455insFs
c.1365dupA
Surrounding Variants
1 paper
NM_001128205.2
p.Q456*
c.1366C>T
1 paper
NM_001128205.2
p.C454_Q459del6
c.1360_1376del18
1 paper
NM_001128205.2
p.A448_R449insFs
c.1344_1345insCC
1 paper
NM_001128205.2
p.C445_Q446insT
c.1333_1337ins3
9 papers
NM_001128205.2
p.L444P
c.1331T>C
1 paper
NM_001128205.2
p.K442delFs
c.1326delA
1 paper
NM_001128205.2
p.N433D
c.1297A>G
1 paper
NM_001128205.2
p.Q431P
c.1292A>C
1 paper
NM_001128205.2
p.Q430R
c.1289A>G
1 paper
NM_001128205.2
p.Q430K
c.1288C>A
1 paper
NM_001128205.2
p.K427delFs
c.1279delA
1 paper
NM_001128205.2
p.S426insFs
c.1277_1278ins4
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