Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.R93H

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
8 papers
NM_021615.5
p.R93H
c.278G>A
Surrounding Variants
1 paper
NM_021615.5
p.R93L
c.278G>T
1 paper
NM_021615.5
p.R93G
c.277C>G
6 papers
NM_021615.5
p.R93S
c.277C>A
5 papers
NM_021615.5
p.V92L
c.274G>T
5 papers
NM_021615.5
p.V92L
c.274G>C
3 papers
NM_021615.5
p.A91fs
c.271_272fs
3 papers
NM_021615.5
p.A91Fs
c.271_273delinsAFs
1 paper
NM_021615.5
p.S84_A91delFs
c.250_272del23
1 paper
NM_021615.5
p.A91fs
c.271_272fs
1 paper
NM_021615.5
p.A91S
c.271G>T
1 paper
NM_021615.5
p.M90I
c.270G>T
1 paper
NM_021615.5
p.M90I
c.270G>C
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."