Varaico: Literature-Extracted Genetic Variants

Gene:CHST2
Variant:p.A338V

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.A338V
c.1013C>T
Surrounding Variants
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.A315V
c.944C>T
1 paper
NM_004267.5
p.A312V
c.935C>T
1 paper
NM_004267.5
p.R365H
c.1094G>A
1 paper
NM_004267.5
p.A372V
c.1115C>T
1 paper
NM_004267.5
p.G373S
c.1117G>A
1 paper
NM_004267.5
p.V302V
c.906C>T
1 paper
NM_004267.5
p.Y298_R299insFs
c.894_895insG
1 paper
NM_004267.5
p.R296H
c.887G>A
1 paper
NM_004267.5
p.E294del1
c.880_881delGAG
2 papers
NM_004267.5
p.A387T
c.1159G>A
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