Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.Q298insFs

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
3 papers
NM_021615.5
p.Q298insFs
c.892_893insC
Surrounding Variants
4 papers
NM_021615.5
p.Q298fs
c.892_893fs
1 paper
NM_021615.5
p.Q298fs
c.892_893fs
13 papers
NM_021615.5
p.Q298*
c.892C>T
5 papers
NM_021615.5
p.Q298_L299insFs
c.894_895insG
2 papers
NM_021615.5
p.L299fs
c.895_896fs
1 paper
NM_021615.5
p.P297_Q298insFs
c.891_892insC
2 papers
NM_021615.5
p.P297fs
c.889_890fs
2 papers
NM_021615.5
p.L299fs
c.895_896fs
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.E300E
c.900G>A
1 paper
NM_021615.5
p.A301V
c.902C>T
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