Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.P132L

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
6 papers
NM_021615.5
p.P132L
c.395C>T
Surrounding Variants
5 papers
NM_021615.5
p.S131L
c.392C>T
2 papers
NM_021615.5
p.P133R
c.398C>G
8 papers
NM_021615.5
p.S131P
c.391T>C
7 papers
NM_021615.5
p.A134D
c.401C>A
1 paper
NM_021615.5
p.C135C
c.405C>T
1 paper
NM_021615.5
p.L129V
c.385C>G
6 papers
NM_021615.5
p.S136G
c.406A>G
9 papers
NM_021615.5
p.A128V
c.383C>T
1 paper
NM_021615.5
p.S136S
c.408T>C
6 papers
NM_021615.5
p.A128T
c.382G>A
8 papers
NM_021615.5
p.R127C
c.379C>T
1 paper
NM_021615.5
p.A137fs
c.409_410fs
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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."