Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.S32*

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
9 papers
NM_021615.5
p.S32*
c.95C>A
Surrounding Variants
3 papers
NM_021615.5
p.S32fs
c.94_95fs
1 paper
NM_021615.5
p.S32S
c.96G>A
1 paper
NM_021615.5
p.S32fs
c.94_95fs
1 paper
NM_021615.5
p.P31fs
c.91_92fs
6 papers
NM_021615.5
p.P31L
c.92C>T
7 papers
NM_021615.5
p.P31S
c.91C>T
1 paper
NM_021615.5
p.S33S
c.99C>A
1 paper
NM_021615.5
p.P34T
c.100C>A
1 paper
NM_021615.5
p.S32_P34delFs
c.94_100del7
1 paper
NM_021615.5
p.P29P
c.87A>G
1 paper
NM_021615.5
p.E38K
c.112G>A
1 paper
NM_021615.5
p.A39T
c.115G>A
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