Varaico: Literature-Extracted Genetic Variants

Gene:HS2ST1
Variant:p.R123L

HS2ST1

26 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. This gene encodes a member of th...

Pfam Domains

Sulfotransfer_2aa 66–320UCSCSulfotransferase family

Gene Aliases

HGNC Name

heparan sulfate 2-O-sulfotransferase 1

HGNC Alias Symbol

KIAA0448

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012262.4
p.R123L
c.368G>T
Surrounding Variants
1 paper
NM_012262.4
p.D165Y
c.493G>T
1 paper
NM_012262.4
p.S172A
c.514T>G
1 paper
NM_012262.4
p.S172Y
c.515C>A
1 paper
NM_012262.4
p.F176S
c.527T>C
1 paper
NM_012262.4
p.D181A
c.542A>C
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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."