Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.D236N

CHST6

158 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gen...

Pfam Domains

Sulfotransfer_1aa 40–357UCSCSulfotransferase domain

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 6

HGNC Previous Symbol

MCDC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021615.5
p.D236N
c.706G>A
Surrounding Variants
1 paper
NM_021615.5
p.G238C
c.712G>T
2 papers
NM_021615.5
p.G238S
c.712G>A
9 papers
NM_021615.5
p.W232*
c.696G>A
9 papers
NM_021615.5
p.W232*
c.695G>A
1 paper
NM_021615.5
p.R240C
c.718C>T
1 paper
NM_021615.5
p.R240H
c.719G>A
1 paper
NM_021615.5
p.T231K
c.692C>A
1 paper
NM_021615.5
p.N229N
c.687C>T
1 paper
NM_021615.5
p.N229K
c.687C>G
1 paper
NM_021615.5
p.N229K
c.687C>A
2 papers
NM_021615.5
p.T228N
c.683C>A
1 paper
NM_021615.5
p.T228delins
c.682_683delinsGA
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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."