Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.S210F

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
7 papers
NM_021615.5
p.S210F
c.629C>T
Surrounding Variants
14 papers
NM_021615.5
p.R211W
c.631C>T
11 papers
NM_021615.5
p.R211G
c.631C>G
13 papers
NM_021615.5
p.R211Q
c.632G>A
1 paper
NM_021615.5
p.R209H
c.626G>A
1 paper
NM_021615.5
p.L208R
c.623T>G
1 paper
NM_021615.5
p.V201_V207del0
c.601_621del21
1 paper
NM_021615.5
p.A206A
c.618C>T
1 paper
NM_021615.5
p.A206A
c.618C>A
6 papers
NM_021615.5
p.A206V
c.617C>T
6 papers
NM_021615.5
p.A206T
c.616G>A
1 paper
NM_021615.5
p.P204_R205del1
c.612_614delCGC
3 papers
NM_021615.5
p.R205fs
c.613_614fs
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."