Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST2
Variant:p.K124N

HS3ST2

47 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. The enzyme encoded by this gene ...

Pfam Domains

Sulfotransfer_1aa 114–362UCSCSulfotransferase domain

Gene Aliases

HGNC Name

heparan sulfate-glucosamine 3-sulfotransferase 2

HGNC Alias Symbol

3OST2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006043.2
p.K124N
c.372G>C
Surrounding Variants
1 paper
NM_006043.2
p.V136A
c.407T>C
1 paper
NM_006043.2
p.Y154*
c.462C>A
1 paper
NM_006043.2
p.Y154*
c.462C>G
1 paper
NM_006043.2
p.P94S
c.280C>T
1 paper
NM_006043.2
p.G155D
c.464G>A
1 paper
NM_006043.2
p.P80fs
c.238_239fs
1 paper
NM_006043.2
p.P78L
c.233C>T
1 paper
NM_006043.2
p.L67F
c.199C>T
1 paper
NM_006043.2
p.Q64K
c.190C>A
1 paper
NM_006043.2
p.A52V
c.155C>T
1 paper
NM_006043.2
p.L50L
c.150C>A
1 paper
NM_006043.2
p.R18H
c.53G>A
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