Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.A124A

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.A124A
c.372C>T
Surrounding Variants
1 paper
NM_021615.5
p.A124A
c.372C>G
2 papers
NM_021615.5
p.V125M
c.373G>A
1 paper
NM_021615.5
p.A124D
c.371C>A
2 papers
NM_021615.5
p.V125fs
c.373_374fs
9 papers
NM_021615.5
p.W123*
c.369G>A
9 papers
NM_021615.5
p.W123*
c.368G>A
1 paper
NM_021615.5
p.S126fs
c.376_377fs
1 paper
NM_021615.5
p.S126G
c.376A>G
1 paper
NM_021615.5
p.W123_V125insFs
c.369_375dup7
2 papers
NM_021615.5
p.Q122fs
c.364_365fs
2 papers
NM_021615.5
p.S126fs
c.376_377fs
8 papers
NM_021615.5
p.R127C
c.379C>T
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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."