Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.R247delFs

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.R247delFs
c.740delC
Surrounding Variants
2 papers
NM_021615.5
p.R247fs
c.739_740fs
1 paper
NM_021615.5
p.R247L
c.740G>T
5 papers
NM_021615.5
p.S248R
c.742A>C
1 paper
NM_021615.5
p.R247fs
c.739_740fs
6 papers
NM_021615.5
p.C246W
c.738C>G
5 papers
NM_021615.5
p.S248R
c.744C>G
5 papers
NM_021615.5
p.S248R
c.744C>A
1 paper
NM_021615.5
p.H249L
c.746A>T
5 papers
NM_021615.5
p.H249R
c.746A>G
7 papers
NM_021615.5
p.H249P
c.746A>C
1 paper
NM_021615.5
p.V245V
c.735G>T
8 papers
NM_021615.5
p.E244*
c.730G>T
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