Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.P186R

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
7 papers
NM_021615.5
p.P186R
c.557C>G
Surrounding Variants
1 paper
NM_021615.5
p.P186Q
c.557C>A
3 papers
NM_021615.5
p.Q182fs
c.544_545fs
4 papers
NM_021615.5
p.Q182delFs
c.545delT
1 paper
NM_021615.5
p.Q182R
c.545A>G
2 papers
NM_021615.5
p.Q182fs
c.544_545fs
4 papers
NM_021615.5
p.Q182*
c.544C>T
1 paper
NM_021615.5
p.P191P
c.573C>G
3 papers
NM_021615.5
p.A192insFs
c.574_575insC
1 paper
NM_021615.5
p.A192T
c.574G>A
1 paper
NM_021615.5
p.A192fs
c.574_575fs
3 papers
NM_021615.5
p.A192fs
c.574_575fs
8 papers
NM_021615.5
p.L193P
c.578T>C
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