Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.S294G

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.S294G
c.880A>G
Surrounding Variants
6 papers
NM_021615.5
p.L293F
c.877C>T
1 paper
NM_021615.5
p.T296T
c.888G>T
1 paper
NM_021615.5
p.T296T
c.888G>C
1 paper
NM_021615.5
p.T291S
c.872C>G
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.P297_Q298insFs
c.891_892insC
2 papers
NM_021615.5
p.P297fs
c.889_890fs
1 paper
NM_021615.5
p.F290L
c.868T>C
1 paper
NM_021615.5
p.Q298fs
c.892_893fs
13 papers
NM_021615.5
p.Q298*
c.892C>T
3 papers
NM_021615.5
p.Q298insFs
c.892_893insC
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