Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.A206V

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
6 papers
NM_021615.5
p.A206V
c.617C>T
Surrounding Variants
6 papers
NM_021615.5
p.A206T
c.616G>A
1 paper
NM_021615.5
p.P204_R205del1
c.612_614delCGC
1 paper
NM_021615.5
p.A206A
c.618C>T
1 paper
NM_021615.5
p.A206A
c.618C>A
3 papers
NM_021615.5
p.R205fs
c.613_614fs
7 papers
NM_021615.5
p.R205L
c.614G>T
11 papers
NM_021615.5
p.R205Q
c.614G>A
2 papers
NM_021615.5
p.P204_R205Fs
c.612_614delinsATFs
1 paper
NM_021615.5
p.R205fs
c.613_614fs
13 papers
NM_021615.5
p.R205W
c.613C>T
1 paper
NM_021615.5
p.P204fs
c.610_611fs
1 paper
NM_021615.5
p.V201_V207del0
c.601_621del21
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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."