Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.L327_N328insFs

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
2 papers
NM_021615.5
p.L327_N328insFs
c.981_982insC
Surrounding Variants
2 papers
NM_021615.5
p.N328fs
c.982_983fs
1 paper
NM_021615.5
p.N328S
c.983A>G
2 papers
NM_021615.5
p.N328fs
c.982_983fs
6 papers
NM_021615.5
p.V329L
c.985G>C
1 paper
NM_021615.5
p.V329V
c.987C>T
2 papers
NM_021615.5
p.A326S
c.976G>T
6 papers
NM_021615.5
p.Q331*
c.991C>T
12 papers
NM_021615.5
p.Q331H
c.993G>T
12 papers
NM_021615.5
p.Q331H
c.993G>C
1 paper
NM_021615.5
p.S323S
c.969C>A
7 papers
NM_021615.5
p.W333G
c.997T>G
7 papers
NM_021615.5
p.W333R
c.997T>C
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