Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.F55L

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.F55L
c.165C>A
Surrounding Variants
6 papers
NM_021615.5
p.F55L
c.165C>G
8 papers
NM_021615.5
p.F55S
c.164T>C
4 papers
NM_021615.5
p.V56M
c.166G>A
4 papers
NM_021615.5
p.V56G
c.167T>G
6 papers
NM_021615.5
p.F55L
c.163T>C
1 paper
NM_021615.5
p.V56delins
c.166_167delinsAG
1 paper
NM_021615.5
p.V56V
c.168G>A
8 papers
NM_021615.5
p.S54F
c.161C>T
6 papers
NM_021615.5
p.S54Y
c.161C>A
10 papers
NM_021615.5
p.S53L
c.158C>T
7 papers
NM_021615.5
p.Q58*
c.172C>T
1 paper
NM_021615.5
p.Q58fs
c.172_173fs
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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."