Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.L160L

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.L160L
c.478C>T
Surrounding Variants
10 papers
NM_021615.5
p.R162G
c.484C>G
1 paper
NM_021615.5
p.R162Q
c.485G>A
1 paper
NM_021615.5
p.K150_R155del0
c.448_465del18
4 papers
NM_021615.5
p.R155fs
c.463_464fs
3 papers
NM_021615.5
p.A154_R155delFs
c.462_463delGC
1 paper
NM_021615.5
p.R155Q
c.464G>A
9 papers
NM_021615.5
p.C165S
c.493T>A
5 papers
NM_021615.5
p.R155fs
c.463_464fs
1 paper
NM_021615.5
p.R155W
c.463C>T
9 papers
NM_021615.5
p.C165S
c.494G>C
8 papers
NM_021615.5
p.C165Y
c.494G>A
3 papers
NM_021615.5
p.C165C
c.495C>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."