Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.H304Y

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
2 papers
NM_021615.5
p.H304Y
c.910C>T
Surrounding Variants
1 paper
NM_021615.5
p.W302L
c.905G>T
1 paper
NM_021615.5
p.I306I
c.918C>T
1 paper
NM_021615.5
p.A301V
c.902C>T
1 paper
NM_021615.5
p.E300E
c.900G>A
6 papers
NM_021615.5
p.H308Y
c.922C>T
2 papers
NM_021615.5
p.L299fs
c.895_896fs
1 paper
NM_021615.5
p.H308H
c.924C>T
6 papers
NM_021615.5
p.G309*
c.925G>T
1 paper
NM_021615.5
p.G309R
c.925G>C
1 paper
NM_021615.5
p.G309R
c.925G>A
5 papers
NM_021615.5
p.Q298_L299insFs
c.894_895insG
2 papers
NM_021615.5
p.L299fs
c.895_896fs
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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."