Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.R5C

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.R5C
c.13C>T
Surrounding Variants
1 paper
NM_021615.5
p.R5_V6insFs
c.15_16ins10
1 paper
NM_021615.5
p.R5_V6insFs
c.15_16ins10
1 paper
NM_021615.5
p.V6L
c.16G>C
1 paper
NM_021615.5
p.V6I
c.16G>A
1 paper
NM_021615.5
p.V6fs
c.16_17fs
1 paper
NM_021615.5
p.R5_V6delFs
c.15_16delCG
6 papers
NM_021615.5
p.V6fs
c.16_17fs
7 papers
NM_021615.5
p.L3M
c.7C>A
1 paper
NM_021615.5
p.W2_L3delins
c.6_7delinsAA
8 papers
NM_021615.5
p.W2*
c.6G>A
8 papers
NM_021615.5
p.W2*
c.5G>A
1 paper
NM_021615.5
p.M1_W2insFs
c.3_4insA
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