Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST5

HS3ST5

34 papers

RefSeq Summary

HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochi...

Pfam Domains

Sulfotransfer_1aa 90–339UCSCSulfotransferase domain

Gene Aliases

HGNC Name

heparan sulfate-glucosamine 3-sulfotransferase 5

HGNC Alias Symbol

3-OST-5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
3 papers
NM_153612.4
p.I247N
c.740T>A
2 papers
NM_153612.4
p.A7V
c.20C>T
2 papers
NM_153612.4
p.L24P
c.71T>C
2 papers
NM_153612.4
p.P114S
c.340C>T
2 papers
NM_153612.4
p.R325C
c.973C>T
1 paper
NM_153612.4
p.F3L
c.7T>C
1 paper
NM_153612.4
p.F3L
c.9C>G
1 paper
NM_153612.4
p.F3L
c.9C>A
1 paper
NM_153612.4
p.A7E
c.20C>A
1 paper
NM_153612.4
p.W8G
c.22T>G
1 paper
NM_153612.4
p.L24I
c.70C>A
1 paper
NM_153612.4
p.L47M
c.139C>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."