Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.P139fs

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.P139fs
c.415_416fs
Surrounding Variants
3 papers
NM_021615.5
p.F138_P139insFs
c.414_415insTT
1 paper
NM_021615.5
p.P139P
c.417C>T
2 papers
NM_021615.5
p.P139fs
c.415_416fs
1 paper
NM_021615.5
p.P139P
c.417C>A
11 papers
NM_021615.5
p.R140*
c.418C>T
1 paper
NM_021615.5
p.A137fs
c.409_410fs
1 paper
NM_021615.5
p.S136S
c.408T>C
6 papers
NM_021615.5
p.S136G
c.406A>G
1 paper
NM_021615.5
p.C135C
c.405C>T
7 papers
NM_021615.5
p.A134D
c.401C>A
9 papers
NM_021615.5
p.S144R
c.430A>C
9 papers
NM_021615.5
p.S144R
c.432C>G
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