Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.C349fs

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
3 papers
NM_021615.5
p.C349fs
c.1045_1046fs
Surrounding Variants
4 papers
NM_021615.5
p.C349W
c.1047C>G
3 papers
NM_021615.5
p.C349delFs
c.1045_1046delCA
7 papers
NM_021615.5
p.C349S
c.1046G>C
6 papers
NM_021615.5
p.C349Y
c.1046G>A
7 papers
NM_021615.5
p.C349S
c.1045T>A
1 paper
NM_021615.5
p.L348R
c.1043T>G
1 paper
NM_021615.5
p.L348V
c.1042C>G
1 paper
NM_021615.5
p.E347E
c.1041A>G
1 paper
NM_021615.5
p.E347G
c.1040A>G
6 papers
NM_021615.5
p.E347*
c.1039G>T
1 paper
NM_021615.5
p.A352V
c.1055C>T
1 paper
NM_021615.5
p.A352_L353insFs
c.1056_1057insC
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