Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.R97C

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.R97C
c.289C>T
Surrounding Variants
7 papers
NM_021615.5
p.R97P
c.290G>C
1 paper
NM_021615.5
p.R97H
c.290G>A
4 papers
NM_021615.5
p.R97_S98insFs
c.291_292insG
2 papers
NM_021615.5
p.S98fs
c.292_293fs
4 papers
NM_021615.5
p.S98F
c.293C>T
4 papers
NM_021615.5
p.S98C
c.293C>G
6 papers
NM_021615.5
p.S98S
c.294C>G
3 papers
NM_021615.5
p.S98fs
c.292_293fs
1 paper
NM_021615.5
p.S98delins
c.293_294delinsTG
1 paper
NM_021615.5
p.S98delins
c.293_294delinsGG
1 paper
NM_021615.5
p.R93L
c.278G>T
8 papers
NM_021615.5
p.R93H
c.278G>A
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."