Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.C102G

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.C102G
c.304T>G
Surrounding Variants
7 papers
NM_021615.5
p.C102Y
c.305G>A
6 papers
NM_021615.5
p.M104V
c.310A>G
6 papers
NM_021615.5
p.S98S
c.294C>G
3 papers
NM_021615.5
p.S98fs
c.292_293fs
1 paper
NM_021615.5
p.S98delins
c.293_294delinsTG
1 paper
NM_021615.5
p.S98delins
c.293_294delinsGG
1 paper
NM_021615.5
p.D105G
c.314A>G
4 papers
NM_021615.5
p.S98F
c.293C>T
4 papers
NM_021615.5
p.S98C
c.293C>G
1 paper
NM_021615.5
p.V106M
c.316G>A
2 papers
NM_021615.5
p.S98fs
c.292_293fs
4 papers
NM_021615.5
p.R97_S98insFs
c.291_292insG
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