Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.A340V

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.A340V
c.1019C>T
Surrounding Variants
1 paper
NM_021615.5
p.K341E
c.1021A>G
1 paper
NM_021615.5
p.R334_P338Fs
c.1002_1012delinsTTGFs
1 paper
NM_021615.5
p.R343C
c.1027C>T
1 paper
NM_021615.5
p.R343H
c.1028G>A
1 paper
NM_021615.5
p.R344H
c.1031G>A
5 papers
NM_021615.5
p.H335fs
c.1003_1004fs
1 paper
NM_021615.5
p.H335fs
c.1003_1004fs
3 papers
NM_021615.5
p.R334H
c.1001G>A
9 papers
NM_021615.5
p.R334C
c.1000C>T
1 paper
NM_021615.5
p.R334S
c.1000C>A
6 papers
NM_021615.5
p.E347*
c.1039G>T
1 paper
NM_021615.5
p.W333*
c.999G>A
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