Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.K174R

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
9 papers
NM_021615.5
p.K174R
c.521A>G
Surrounding Variants
4 papers
NM_021615.5
p.K174M
c.521A>T
1 paper
NM_021615.5
p.K174K
c.522G>A
2 papers
NM_021615.5
p.K174Q
c.520A>C
7 papers
NM_021615.5
p.L173P
c.518T>C
8 papers
NM_021615.5
p.L173F
c.517C>T
8 papers
NM_021615.5
p.V176M
c.526G>A
1 paper
NM_021615.5
p.V172A
c.515T>C
3 papers
NM_021615.5
p.V172L
c.514G>T
3 papers
NM_021615.5
p.V172L
c.514G>C
1 paper
NM_021615.5
p.V171V
c.513G>A
7 papers
NM_021615.5
p.R177C
c.529C>T
6 papers
NM_021615.5
p.R177G
c.529C>G
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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."