Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.S84fs

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.S84fs
c.250_251fs
Surrounding Variants
1 paper
NM_021615.5
p.A86T
c.256G>A
8 papers
NM_021615.5
p.Q82*
c.244C>T
1 paper
NM_021615.5
p.S81S
c.243G>A
1 paper
NM_021615.5
p.A86V
c.257C>T
1 paper
NM_021615.5
p.S81*
c.242C>A
2 papers
NM_021615.5
p.A86A
c.258A>C
1 paper
NM_021615.5
p.T87T
c.261G>T
4 papers
NM_021615.5
p.L88V
c.262C>G
1 paper
NM_021615.5
p.H89N
c.265C>A
1 paper
NM_021615.5
p.M90V
c.268A>G
5 papers
NM_021615.5
p.W77C
c.231G>T
5 papers
NM_021615.5
p.W77C
c.231G>C
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