Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.F67fs

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
3 papers
NM_021615.5
p.F67fs
c.199_200fs
Surrounding Variants
6 papers
NM_021615.5
p.Y68H
c.202T>C
1 paper
NM_021615.5
p.F67S
c.200T>C
1 paper
NM_021615.5
p.F67I
c.199T>A
4 papers
NM_021615.5
p.V66delFs
c.198delG
2 papers
NM_021615.5
p.F67fs
c.199_200fs
1 paper
NM_021615.5
p.V66fs
c.196_197fs
6 papers
NM_021615.5
p.V66F
c.196G>T
8 papers
NM_021615.5
p.V66L
c.196G>C
5 papers
NM_021615.5
p.M70L
c.208A>T
5 papers
NM_021615.5
p.M70L
c.208A>C
1 paper
NM_021615.5
p.M70K
c.209T>A
8 papers
NM_021615.5
p.E71Q
c.211G>C
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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."