Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.Q182fs

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
2 papers
NM_021615.5
p.Q182fs
c.544_545fs
Surrounding Variants
4 papers
NM_021615.5
p.Q182*
c.544C>T
1 paper
NM_021615.5
p.Q182R
c.545A>G
3 papers
NM_021615.5
p.Q182fs
c.544_545fs
4 papers
NM_021615.5
p.Q182delFs
c.545delT
8 papers
NM_021615.5
p.F178C
c.533T>G
7 papers
NM_021615.5
p.P186R
c.557C>G
1 paper
NM_021615.5
p.P186Q
c.557C>A
7 papers
NM_021615.5
p.R177H
c.530G>A
7 papers
NM_021615.5
p.R177C
c.529C>T
6 papers
NM_021615.5
p.R177G
c.529C>G
8 papers
NM_021615.5
p.V176M
c.526G>A
1 paper
NM_021615.5
p.K174K
c.522G>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."