Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.L356L

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
1 paper
NM_021615.5
p.L356L
c.1068G>T
Surrounding Variants
8 papers
NM_021615.5
p.Y358D
c.1072T>G
12 papers
NM_021615.5
p.Y358H
c.1072T>C
2 papers
NM_021615.5
p.Q354fs
c.1060_1061fs
2 papers
NM_021615.5
p.R359W
c.1075C>T
1 paper
NM_021615.5
p.R359R
c.1075C>A
1 paper
NM_021615.5
p.Q354fs
c.1060_1061fs
2 papers
NM_021615.5
p.L348_G351insFs
c.1044_1051dup8
3 papers
NM_021615.5
p.L353fs
c.1057_1058fs
1 paper
NM_021615.5
p.L353fs
c.1057_1058fs
2 papers
NM_021615.5
p.A352_P360delFs
c.1056_1078del23
1 paper
NM_021615.5
p.A352_L353insFs
c.1056_1057insC
1 paper
NM_021615.5
p.A352fs
c.1054_1055fs
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