Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.Q18fs

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
3 papers
NM_021615.5
p.Q18fs
c.52_53fs
Surrounding Variants
1 paper
NM_021615.5
p.Q18R
c.53A>G
1 paper
NM_021615.5
p.Q18fs
c.52_53fs
7 papers
NM_021615.5
p.Q18*
c.52C>T
3 papers
NM_021615.5
p.A17delFs
c.51delC
2 papers
NM_021615.5
p.F20S
c.59T>C
1 paper
NM_021615.5
p.F20Fs
c.59delinsGAFs
3 papers
NM_021615.5
p.F20fs
c.58_59fs
2 papers
NM_021615.5
p.L21fs
c.61_62fs
3 papers
NM_021615.5
p.L21insFs
c.62_63insA
3 papers
NM_021615.5
p.L21R
c.62T>G
2 papers
NM_021615.5
p.L21H
c.62T>A
3 papers
NM_021615.5
p.L21Fs
c.62delinsGAFs
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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."