Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.Q430R

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.Q430R
c.1289A>G
Surrounding Variants
1 paper
NM_001128205.2
p.Q430K
c.1288C>A
1 paper
NM_001128205.2
p.Q431P
c.1292A>C
1 paper
NM_001128205.2
p.N433D
c.1297A>G
1 paper
NM_001128205.2
p.K427delFs
c.1279delA
1 paper
NM_001128205.2
p.S426insFs
c.1277_1278ins4
1 paper
NM_001128205.2
p.S425A
c.1273T>G
1 paper
NM_001128205.2
p.E424A
c.1271A>C
2 papers
NM_001128205.2
p.E424Q
c.1270G>C
1 paper
NM_001128205.2
p.E424insFs
c.1270_1271insCC
1 paper
NM_001128205.2
p.K442delFs
c.1326delA
9 papers
NM_001128205.2
p.L444P
c.1331T>C
1 paper
NM_001128205.2
p.C445_Q446insT
c.1333_1337ins3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."