Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST4
Variant:p.R319Q

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.R319Q
c.956G>A
Surrounding Variants
1 paper
NM_006040.3
p.W328C
c.984G>C
1 paper
NM_006040.3
p.W328C
c.984G>T
2 papers
NM_006040.3
p.R332*
c.994C>T
2 papers
NM_006040.3
p.R332Q
c.995G>A
1 paper
NM_006040.3
p.T299R
c.896C>G
1 paper
NM_006040.3
p.W343G
c.1027T>G
1 paper
NM_006040.3
p.V291M
c.871G>A
1 paper
NM_006040.3
p.N289S
c.866A>G
1 paper
NM_006040.3
p.Q351E
c.1051C>G
1 paper
NM_006040.3
p.L360L
c.1080C>G
1 paper
NM_006040.3
p.M277T
c.830T>C
1 paper
NM_006040.3
p.R273H
c.818G>A
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