Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.W333R

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
7 papers
NM_021615.5
p.W333R
c.997T>A
Surrounding Variants
7 papers
NM_021615.5
p.W333G
c.997T>G
7 papers
NM_021615.5
p.W333R
c.997T>C
1 paper
NM_021615.5
p.W333*
c.998G>A
1 paper
NM_021615.5
p.W333*
c.999G>A
9 papers
NM_021615.5
p.R334C
c.1000C>T
1 paper
NM_021615.5
p.R334S
c.1000C>A
12 papers
NM_021615.5
p.Q331H
c.993G>T
12 papers
NM_021615.5
p.Q331H
c.993G>C
3 papers
NM_021615.5
p.R334H
c.1001G>A
1 paper
NM_021615.5
p.H335fs
c.1003_1004fs
6 papers
NM_021615.5
p.Q331*
c.991C>T
5 papers
NM_021615.5
p.H335fs
c.1003_1004fs
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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."