Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST5
Variant:p.L24P

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
2 papers
NM_153612.4
p.L24P
c.71T>C
Surrounding Variants
1 paper
NM_153612.4
p.L24I
c.70C>A
1 paper
NM_153612.4
p.W8G
c.22T>G
2 papers
NM_153612.4
p.A7V
c.20C>T
1 paper
NM_153612.4
p.A7E
c.20C>A
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.F3L
c.7T>C
1 paper
NM_153612.4
p.L47M
c.139C>A
1 paper
NM_153612.4
p.R51H
c.152G>A
1 paper
NM_153612.4
p.R59H
c.176G>A
1 paper
NM_153612.4
p.R72Q
c.215G>A
1 paper
NM_153612.4
p.R82H
c.245G>A
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