Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST4
Variant:p.R379C

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.R379C
c.1135C>T
Surrounding Variants
1 paper
NM_006040.3
p.E383E
c.1149G>A
1 paper
NM_006040.3
p.K384T
c.1151A>C
1 paper
NM_006040.3
p.G393W
c.1177G>T
1 paper
NM_006040.3
p.L360L
c.1080C>G
1 paper
NM_006040.3
p.L397Q
c.1190T>A
1 paper
NM_006040.3
p.D402N
c.1204G>A
1 paper
NM_006040.3
p.P406T
c.1216C>A
1 paper
NM_006040.3
p.Q351E
c.1051C>G
1 paper
NM_006040.3
p.G410C
c.1228G>T
1 paper
NM_006040.3
p.G410V
c.1229G>T
1 paper
NM_006040.3
p.W343G
c.1027T>G
2 papers
NM_006040.3
p.T416P
c.1246A>C
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