Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.S118F

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
6 papers
NM_021615.5
p.S118F
c.353C>T
Surrounding Variants
1 paper
NM_021615.5
p.S118C
c.353C>G
5 papers
NM_021615.5
p.F121L
c.361T>C
5 papers
NM_021615.5
p.F121S
c.362T>C
1 paper
NM_021615.5
p.F121F
c.363C>T
5 papers
NM_021615.5
p.F121L
c.363C>G
1 paper
NM_021615.5
p.R115G
c.343C>G
1 paper
NM_021615.5
p.F121fs
c.361_362fs
5 papers
NM_021615.5
p.F121L
c.363C>A
1 paper
NM_021615.5
p.Q122fs
c.364_365fs
6 papers
NM_021615.5
p.Q122P
c.365A>C
3 papers
NM_021615.5
p.F121_Q122insFs
c.363_364insC
2 papers
NM_021615.5
p.Q122fs
c.364_365fs
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