Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST5
Variant:p.R311C

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
Selected Variant
1 paper
NM_153612.4
p.R311C
c.931C>T
Surrounding Variants
1 paper
NM_153612.4
p.R311S
c.931C>A
1 paper
NM_153612.4
p.R311H
c.932G>A
1 paper
NM_153612.4
p.D317E
c.951C>G
1 paper
NM_153612.4
p.D317E
c.951C>A
2 papers
NM_153612.4
p.R325C
c.973C>T
1 paper
NM_153612.4
p.R325H
c.974G>A
1 paper
NM_153612.4
p.Q337*
c.1009C>T
1 paper
NM_153612.4
p.L275M
c.823C>A
1 paper
NM_153612.4
p.V252A
c.755T>C
1 paper
NM_153612.4
p.E248Q
c.742G>C
3 papers
NM_153612.4
p.I247N
c.740T>A
1 paper
NM_153612.4
p.P185T
c.553C>A
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