Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.E366*

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.E366*
c.1096G>T
Surrounding Variants
1 paper
NM_021615.5
p.D365D
c.1095C>T
3 papers
NM_021615.5
p.E364fs
c.1090_1091fs
1 paper
NM_021615.5
p.Q367Q
c.1101G>A
1 paper
NM_021615.5
p.E364G
c.1091A>G
2 papers
NM_021615.5
p.S363_E364delFs
c.1089_1090delCA
2 papers
NM_021615.5
p.E364fs
c.1090_1091fs
1 paper
NM_021615.5
p.S363F
c.1088C>T
2 papers
NM_021615.5
p.S363_E364insC
c.1087_1091ins3
1 paper
NM_021615.5
p.Y362F
c.1085A>T
8 papers
NM_021615.5
p.L370L
c.1110C>T
1 paper
NM_021615.5
p.L370L
c.1110C>A
1 paper
NM_021615.5
p.A371V
c.1112C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."