Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.A352_P360delFs

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.A352_P360delFs
c.1056_1078del23
Surrounding Variants
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.Y362F
c.1085A>T
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.S363_E364insC
c.1087_1091ins3
1 paper
NM_021615.5
p.S363F
c.1088C>T
1 paper
NM_021615.5
p.L356L
c.1068G>T
2 papers
NM_021615.5
p.E364fs
c.1090_1091fs
1 paper
NM_021615.5
p.E364G
c.1091A>G
2 papers
NM_021615.5
p.S363_E364delFs
c.1089_1090delCA
3 papers
NM_021615.5
p.E364fs
c.1090_1091fs
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