Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.A128T

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
6 papers
NM_021615.5
p.A128T
c.382G>A
Surrounding Variants
9 papers
NM_021615.5
p.A128V
c.383C>T
8 papers
NM_021615.5
p.R127C
c.379C>T
1 paper
NM_021615.5
p.L129V
c.385C>G
2 papers
NM_021615.5
p.S126fs
c.376_377fs
1 paper
NM_021615.5
p.S126fs
c.376_377fs
1 paper
NM_021615.5
p.S126G
c.376A>G
1 paper
NM_021615.5
p.W123_V125insFs
c.369_375dup7
2 papers
NM_021615.5
p.V125fs
c.373_374fs
8 papers
NM_021615.5
p.S131P
c.391T>C
2 papers
NM_021615.5
p.V125M
c.373G>A
5 papers
NM_021615.5
p.S131L
c.392C>T
1 paper
NM_021615.5
p.A124A
c.372C>T
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