Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.T228delins

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.T228delins
c.682_683delinsGA
Surrounding Variants
2 papers
NM_021615.5
p.T228N
c.683C>A
2 papers
NM_021615.5
p.T228A
c.682A>G
1 paper
NM_021615.5
p.G227G
c.681C>T
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
1 paper
NM_021615.5
p.T231K
c.692C>A
9 papers
NM_021615.5
p.W232*
c.695G>A
9 papers
NM_021615.5
p.W232*
c.696G>A
1 paper
NM_021615.5
p.I224V
c.670A>G
9 papers
NM_021615.5
p.G223D
c.668G>A
11 papers
NM_021615.5
p.D221E
c.663C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."