Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.A289G

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.A289G
c.866C>G
Surrounding Variants
1 paper
NM_021615.5
p.F290L
c.868T>C
1 paper
NM_021615.5
p.T291S
c.871A>T
1 paper
NM_021615.5
p.T291A
c.871A>G
1 paper
NM_021615.5
p.T291S
c.872C>G
6 papers
NM_021615.5
p.L293F
c.877C>T
1 paper
NM_021615.5
p.R285S
c.853C>A
1 paper
NM_021615.5
p.S294G
c.880A>G
1 paper
NM_021615.5
p.I284V
c.850A>G
1 paper
NM_021615.5
p.E283delins
c.847_848delinsTG
5 papers
NM_021615.5
p.E283*
c.847G>T
1 paper
NM_021615.5
p.T296T
c.888G>T
1 paper
NM_021615.5
p.T296T
c.888G>C
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