Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST2
Variant:p.R276P

HS3ST2

47 papers

RefSeq Summary

Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene ...

Pfam Domains

Sulfotransfer_1aa 114–362UCSCSulfotransferase domain

Gene Aliases

HGNC Name

heparan sulfate-glucosamine 3-sulfotransferase 2

HGNC Alias Symbol

3OST2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006043.2
p.R276P
c.827G>C
Surrounding Variants
1 paper
NM_006043.2
p.G274G
c.822C>T
1 paper
NM_006043.2
p.G283G
c.849C>T
1 paper
NM_006043.2
p.E284K
c.850G>A
1 paper
NM_006043.2
p.P265Q
c.794C>A
1 paper
NM_006043.2
p.S259C
c.775A>T
2 papers
NM_006043.2
p.V254M
c.760G>A
1 paper
NM_006043.2
p.R249C
c.745C>T
1 paper
NM_006043.2
p.W245*
c.735G>A
1 paper
NM_006043.2
p.W245*
c.734G>A
1 paper
NM_006043.2
p.S244S
c.732A>G
1 paper
NM_006043.2
p.R236H
c.707G>A
1 paper
NM_006043.2
p.R236G
c.706C>G
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