Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.N61T

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.N61T
c.182A>C
Surrounding Variants
3 papers
NM_021615.5
p.N61N
c.183C>T
7 papers
NM_021615.5
p.N61K
c.183C>G
7 papers
NM_021615.5
p.N61K
c.183C>A
1 paper
NM_021615.5
p.N61Y
c.181A>T
6 papers
NM_021615.5
p.F60delFs
c.180delG
1 paper
NM_021615.5
p.F60L
c.180C>G
5 papers
NM_021615.5
p.F60fs
c.178_179fs
1 paper
NM_021615.5
p.F60L
c.180C>A
1 paper
NM_021615.5
p.F60L
c.178T>C
1 paper
NM_021615.5
p.F60fs
c.178_179fs
6 papers
NM_021615.5
p.L59P
c.176T>C
6 papers
NM_021615.5
p.L59H
c.176T>A
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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."