Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST3A1
Variant:p.S117P

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.S117P
c.349T>C
Surrounding Variants
1 paper
NM_006042.3
p.W113L
c.338G>T
1 paper
NM_006042.3
p.R99H
c.296G>A
1 paper
NM_006042.3
p.E147K
c.439G>A
1 paper
NM_006042.3
p.Q86L
c.257A>T
1 paper
NM_006042.3
p.P82L
c.245C>T
1 paper
NM_006042.3
p.G73R
c.217G>C
1 paper
NM_006042.3
p.G73R
c.217G>A
1 paper
NM_006042.3
p.E61D
c.183G>T
1 paper
NM_006042.3
p.E61D
c.183G>C
1 paper
NM_006042.3
p.G182D
c.545G>A
1 paper
NM_006042.3
p.G51D
c.152G>A
1 paper
NM_006042.3
p.A197S
c.589G>T
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."