Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.P204Q

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.P204Q
c.611C>A
Surrounding Variants
8 papers
NM_021615.5
p.P204R
c.611C>G
1 paper
NM_021615.5
p.P204fs
c.610_611fs
6 papers
NM_021615.5
p.P204S
c.610C>T
1 paper
NM_021615.5
p.R205fs
c.613_614fs
13 papers
NM_021615.5
p.R205W
c.613C>T
8 papers
NM_021615.5
p.D203E
c.609C>G
2 papers
NM_021615.5
p.D203fs
c.607_608fs
8 papers
NM_021615.5
p.D203E
c.609C>A
7 papers
NM_021615.5
p.R205L
c.614G>T
11 papers
NM_021615.5
p.R205Q
c.614G>A
2 papers
NM_021615.5
p.P204_R205Fs
c.612_614delinsATFs
2 papers
NM_021615.5
p.R202delFs
c.605_606delGC
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