Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST4
Variant:p.R218H

HS3ST4

50 papers

RefSeq Summary

This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as...

Pfam Domains

Sulfotransfer_1aa 197–446UCSCSulfotransferase domain

Gene Aliases

HGNC Name

heparan sulfate-glucosamine 3-sulfotransferase 4

HGNC Alias Symbol

3OST4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006040.3
p.R218H
c.653G>A
Surrounding Variants
1 paper
NM_006040.3
p.F232V
c.694T>G
1 paper
NM_006040.3
p.A200V
c.599C>T
1 paper
NM_006040.3
p.K196R
c.587A>G
1 paper
NM_006040.3
p.L241L
c.723G>A
1 paper
NM_006040.3
p.T167N
c.500C>A
1 paper
NM_006040.3
p.L156L
c.466C>T
1 paper
NM_006040.3
p.Q136R
c.407A>G
1 paper
NM_006040.3
p.E116del1
c.346_347delGAG
1 paper
NM_006040.3
p.P112P
c.336C>T
1 paper
NM_006040.3
p.E110*
c.328G>T
1 paper
NM_006040.3
p.P100L
c.299C>T
1 paper
NM_006040.3
p.P77L
c.230C>T
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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."