Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.R202L

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.R202L
c.605G>T
Surrounding Variants
1 paper
NM_021615.5
p.R202H
c.605G>A
5 papers
NM_021615.5
p.R202C
c.604C>T
1 paper
NM_021615.5
p.R202fs
c.604_605fs
9 papers
NM_021615.5
p.R202S
c.604C>A
7 papers
NM_021615.5
p.D203Y
c.607G>T
6 papers
NM_021615.5
p.D203N
c.607G>A
1 paper
NM_021615.5
p.D203fs
c.607_608fs
2 papers
NM_021615.5
p.R202delFs
c.605_606delGC
8 papers
NM_021615.5
p.D203E
c.609C>G
2 papers
NM_021615.5
p.D203fs
c.607_608fs
8 papers
NM_021615.5
p.D203E
c.609C>A
6 papers
NM_021615.5
p.P204S
c.610C>T
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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."