Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.C149insFs

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
1 paper
NM_021615.5
p.C149insFs
c.445_446insGC
Surrounding Variants
8 papers
NM_021615.5
p.C149G
c.445T>G
1 paper
NM_021615.5
p.C149fs
c.445_446fs
6 papers
NM_021615.5
p.C149Y
c.446G>A
1 paper
NM_021615.5
p.C149fs
c.445_446fs
1 paper
NM_021615.5
p.C149delFs
c.445_446delCA
1 paper
NM_021615.5
p.K150fs
c.448_449fs
1 paper
NM_021615.5
p.C149insFs
c.446_447dupGC
1 paper
NM_021615.5
p.L152L
c.454C>T
7 papers
NM_021615.5
p.L152P
c.455T>C
9 papers
NM_021615.5
p.S144R
c.432C>G
9 papers
NM_021615.5
p.S144R
c.432C>A
6 papers
NM_021615.5
p.C153*
c.459C>A
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