Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST2

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
1–12 of 44 variants
2 papers
NM_006043.2
p.V202M
c.604G>A
2 papers
NM_006043.2
p.R205W
c.613C>T
2 papers
NM_006043.2
p.R210H
c.629G>A
2 papers
NM_006043.2
p.T216M
c.647C>T
2 papers
NM_006043.2
p.V254M
c.760G>A
2 papers
NM_006043.2
p.R324Q
c.971G>A
1 paper
NM_006043.2
p.Q13*
c.37C>T
1 paper
NM_006043.2
p.R15W
c.43C>T
1 paper
NM_006043.2
p.R18H
c.53G>A
1 paper
NM_006043.2
p.L50L
c.150C>A
1 paper
NM_006043.2
p.A52V
c.155C>T
1 paper
NM_006043.2
p.Q64K
c.190C>A
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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."