Varaico: Literature-Extracted Genetic Variants

Gene:CHST2
Variant:p.R119H

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.R119H
c.356G>A
Surrounding Variants
1 paper
NM_004267.5
p.L122F
c.364C>T
1 paper
NM_004267.5
p.G112fs
c.334_335fs
2 papers
NM_004267.5
p.A130T
c.388G>A
1 paper
NM_004267.5
p.G107E
c.320G>A
1 paper
NM_004267.5
p.G107R
c.319G>A
1 paper
NM_004267.5
p.G107R
c.319G>C
1 paper
NM_004267.5
p.G134R
c.400G>A
1 paper
NM_004267.5
p.A135V
c.404C>T
1 paper
NM_004267.5
p.A140P
c.418G>C
1 paper
NM_004267.5
p.A141T
c.421G>A
1 paper
NM_004267.5
p.A96A
c.288G>C
1 paper
NM_004267.5
p.V146G
c.437T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."