Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.L195L

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.L195L
c.585A>G
Surrounding Variants
1 paper
NM_021615.5
p.P191_L195del0
c.572_583del12
1 paper
NM_021615.5
p.N194_R196delins
c.581_586delinsGGT
2 papers
NM_021615.5
p.R196ins1
c.587_588insACG
1 paper
NM_021615.5
p.L195L
c.583C>T
1 paper
NM_021615.5
p.L195_R196ins0
c.585_587dupACG
8 papers
NM_021615.5
p.L193P
c.578T>C
1 paper
NM_021615.5
p.V198A
c.593T>C
7 papers
NM_021615.5
p.V198E
c.593T>A
3 papers
NM_021615.5
p.A192fs
c.574_575fs
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
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