Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.S348R

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.S348R
c.1042A>C
Surrounding Variants
1 paper
NM_001128205.2
p.P347insFs
c.1040_1041insT
6 papers
NM_001128205.2
p.E350G
c.1049A>G
2 papers
NM_001128205.2
p.G346delFs
c.1036delG
3 papers
NM_001128205.2
p.R345C
c.1033C>T
1 paper
NM_001128205.2
p.P351L
c.1052C>T
1 paper
NM_001128205.2
p.S353T
c.1057T>A
1 paper
NM_001128205.2
p.S353P
c.1057T>C
1 paper
NM_001128205.2
p.S353L
c.1058C>T
1 paper
NM_001128205.2
p.I354Splc
c.1061+4C>T
1 paper
NM_001128205.2
p.R339H
c.1016G>A
2 papers
NM_001128205.2
p.D337V
c.1010A>T
1 paper
NM_001128205.2
p.F336L
c.1006T>C
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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."