Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST3A1
Variant:p.K234N

HS3ST3A1

35 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 152–400UCSCSulfotransferase domain

Gene Aliases

HGNC Name

heparan sulfate-glucosamine 3-sulfotransferase 3A1

HGNC Alias Symbols

3OST3A1; 30ST3A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006042.3
p.K234N
c.702G>C
Surrounding Variants
1 paper
NM_006042.3
p.K234N
c.702G>T
1 paper
NM_006042.3
p.D235E
c.705C>G
1 paper
NM_006042.3
p.D235E
c.705C>A
1 paper
NM_006042.3
p.T236P
c.706A>C
1 paper
NM_006042.3
p.V240M
c.718G>A
1 paper
NM_006042.3
p.T247P
c.739A>C
1 paper
NM_006042.3
p.F220F
c.660C>T
2 papers
NM_006042.3
p.T256M
c.767C>T
1 paper
NM_006042.3
p.I211V
c.631A>G
1 paper
NM_006042.3
p.I290L
c.868A>C
1 paper
NM_006042.3
p.I290M
c.870C>G
1 paper
NM_006042.3
p.H297P
c.890A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."