Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.L46P

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
4 papers
NM_021615.5
p.L46P
c.137T>C
Surrounding Variants
1 paper
NM_021615.5
p.S48L
c.143C>T
6 papers
NM_021615.5
p.S48*
c.143C>A
12 papers
NM_021615.5
p.R50C
c.148C>T
7 papers
NM_021615.5
p.R50S
c.148C>A
6 papers
NM_021615.5
p.R50L
c.149G>T
6 papers
NM_021615.5
p.H42Y
c.124C>T
8 papers
NM_021615.5
p.S51L
c.152C>T
7 papers
NM_021615.5
p.S51*
c.152C>A
6 papers
NM_021615.5
p.G52D
c.155G>A
1 paper
NM_021615.5
p.R40H
c.119G>A
10 papers
NM_021615.5
p.S53L
c.158C>T
1 paper
NM_021615.5
p.A39T
c.115G>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."