Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.Y110C

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
8 papers
NM_021615.5
p.Y110C
c.329A>G
Surrounding Variants
1 paper
NM_021615.5
p.Y110H
c.328T>C
1 paper
NM_021615.5
p.P112H
c.335C>A
7 papers
NM_021615.5
p.F107S
c.320T>C
5 papers
NM_021615.5
p.R114C
c.340C>T
1 paper
NM_021615.5
p.V106M
c.316G>A
1 paper
NM_021615.5
p.R115G
c.343C>G
1 paper
NM_021615.5
p.D105G
c.314A>G
6 papers
NM_021615.5
p.M104V
c.310A>G
7 papers
NM_021615.5
p.C102Y
c.305G>A
6 papers
NM_021615.5
p.S118F
c.353C>T
1 paper
NM_021615.5
p.S118C
c.353C>G
12 papers
NM_021615.5
p.C102G
c.304T>G
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