Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.R166P

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
8 papers
NM_021615.5
p.R166P
c.497G>C
Surrounding Variants
3 papers
NM_021615.5
p.C165C
c.495C>T
9 papers
NM_021615.5
p.C165W
c.495C>G
3 papers
NM_021615.5
p.C165*
c.495C>A
2 papers
NM_021615.5
p.C165delins
c.494_495delinsCT
9 papers
NM_021615.5
p.C165S
c.494G>C
8 papers
NM_021615.5
p.C165Y
c.494G>A
9 papers
NM_021615.5
p.S167F
c.500C>T
9 papers
NM_021615.5
p.C165S
c.493T>A
1 paper
NM_021615.5
p.R162Q
c.485G>A
1 paper
NM_021615.5
p.H170R
c.509A>G
10 papers
NM_021615.5
p.R162G
c.484C>G
1 paper
NM_021615.5
p.V171M
c.511G>A
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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."