Varaico: Literature-Extracted Genetic Variants

Gene:CHST2
Variant:p.A372V

CHST2

77 papers

RefSeq Summary

This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X ant...

Pfam Domains

Sulfotransfer_1aa 165–507UCSCSulfotransferase domain

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 2

HGNC Alias Symbol

C6ST

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004267.5
p.A372V
c.1115C>T
Surrounding Variants
1 paper
NM_004267.5
p.G373S
c.1117G>A
1 paper
NM_004267.5
p.R365H
c.1094G>A
2 papers
NM_004267.5
p.A387T
c.1159G>A
1 paper
NM_004267.5
p.T405M
c.1214C>T
1 paper
NM_004267.5
p.A338V
c.1013C>T
1 paper
NM_004267.5
p.A336V
c.1007C>T
1 paper
NM_004267.5
p.R332R
c.996T>G
1 paper
NM_004267.5
p.P412_D414delFs
c.1236_1240del5
1 paper
NM_004267.5
p.P413fs
c.1237_1238fs
1 paper
NM_004267.5
p.D414E
c.1242C>A
1 paper
NM_004267.5
p.D414E
c.1242C>G
1 paper
NM_004267.5
p.W415insFs
c.1243_1244ins5
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