Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.W74R

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.W74R
c.220T>C
Surrounding Variants
1 paper
NM_021615.5
p.W74R
c.220T>A
7 papers
NM_021615.5
p.A73V
c.218C>T
5 papers
NM_021615.5
p.A73P
c.217G>C
8 papers
NM_021615.5
p.A73T
c.217G>A
7 papers
NM_021615.5
p.V76M
c.226G>A
7 papers
NM_021615.5
p.P72S
c.214C>T
2 papers
NM_021615.5
p.E71D
c.213G>T
2 papers
NM_021615.5
p.E71D
c.213G>C
2 papers
NM_021615.5
p.E71G
c.212A>G
8 papers
NM_021615.5
p.E71Q
c.211G>C
5 papers
NM_021615.5
p.W77*
c.230G>A
1 paper
NM_021615.5
p.M70K
c.209T>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."