Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.A217T

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
12 papers
NM_021615.5
p.A217T
c.649G>A
Surrounding Variants
1 paper
NM_021615.5
p.A219V
c.656C>T
1 paper
NM_021615.5
p.A219_R220ins1
c.657_658insCTG
4 papers
NM_021615.5
p.A219ins1
c.656_657insCTG
1 paper
NM_021615.5
p.R220L
c.659G>T
6 papers
NM_021615.5
p.D221Y
c.661G>T
11 papers
NM_021615.5
p.D221E
c.663C>G
11 papers
NM_021615.5
p.D221E
c.663C>A
13 papers
NM_021615.5
p.R211Q
c.632G>A
14 papers
NM_021615.5
p.R211W
c.631C>T
11 papers
NM_021615.5
p.R211G
c.631C>G
9 papers
NM_021615.5
p.G223D
c.668G>A
7 papers
NM_021615.5
p.S210F
c.629C>T
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