Varaico: Literature-Extracted Genetic Variants

Gene:CHST2

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
1–12 of 91 variants
2 papers
NM_004267.5
p.R52P
c.155G>C
2 papers
NM_004267.5
p.G61G
c.183C>T
2 papers
NM_004267.5
p.A130T
c.388G>A
2 papers
NM_004267.5
p.G161R
c.481G>A
2 papers
NM_004267.5
p.G161R
c.481G>C
2 papers
NM_004267.5
p.S177W
c.530C>G
2 papers
NM_004267.5
p.A387T
c.1159G>A
2 papers
NM_004267.5
p.R437W
c.1309C>T
1 paper
NM_004267.5
p.M1L
c.1A>C
1 paper
NM_004267.5
p.M1L
c.1A>T
1 paper
NM_004267.5
p.M1T
c.2T>C
1 paper
NM_004267.5
p.Q19P
c.56A>C
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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."