Varaico: Literature-Extracted Genetic Variants

Gene:HS2ST1
Variant:p.T254I

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.T254I
c.761C>T
Surrounding Variants
1 paper
NM_012262.4
p.R270Q
c.809G>A
1 paper
NM_012262.4
p.T276I
c.827C>T
1 paper
NM_012262.4
p.R288T
c.863G>C
1 paper
NM_012262.4
p.A320T
c.958G>A
1 paper
NM_012262.4
p.R333Q
c.998G>A
1 paper
NM_012262.4
p.D336Y
c.1006G>T
1 paper
NM_012262.4
p.K354M
c.1061A>T
1 paper
NM_012262.4
p.P219S
c.655C>T
1 paper
NM_012262.4
p.E204K
c.610G>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."