Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.Y268C

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
14 papers
NM_021615.5
p.Y268C
c.803A>G
Surrounding Variants
1 paper
NM_021615.5
p.R265C
c.793C>T
3 papers
NM_021615.5
p.L264fs
c.790_791fs
1 paper
NM_021615.5
p.L264L
c.792G>A
13 papers
NM_021615.5
p.R272S
c.814C>A
5 papers
NM_021615.5
p.R272H
c.815G>A
2 papers
NM_021615.5
p.L264fs
c.790_791fs
1 paper
NM_021615.5
p.F263F
c.789T>C
5 papers
NM_021615.5
p.P262delFs
c.786delG
1 paper
NM_021615.5
p.F273F
c.819C>T
7 papers
NM_021615.5
p.E274Q
c.820G>C
13 papers
NM_021615.5
p.E274K
c.820G>A
11 papers
NM_021615.5
p.L276P
c.827T>C
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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."