Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.T227I

CSGALNACT1

77 papers

RefSeq Summary

This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mo...

Pfam Domains

CHGNaa 59–507UCSCChondroitin N-acetylgalactosaminyltransferase

Gene Aliases

HGNC Name

chondroitin sulfate N-acetylgalactosaminyltransferase 1

HGNC Alias Symbols

CSGalNAcT-1; FLJ11264; ChGn

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001354483.2
p.T227I
c.680C>T
Surrounding Variants
1 paper
NM_001354483.2
p.D231V
c.692A>T
4 papers
NM_001354483.2
p.H234R
c.701A>G
2 papers
NM_001354483.2
p.D219G
c.656A>G
1 paper
NM_001354483.2
p.R218M
c.653G>T
1 paper
NM_001354483.2
p.L239P
c.716T>C
1 paper
NM_001354483.2
p.I240V
c.718A>G
1 paper
NM_001354483.2
p.G212A
c.635G>C
1 paper
NM_001354483.2
p.K252T
c.755A>C
1 paper
NM_001354483.2
p.L256L
c.768C>T
1 paper
NM_001354483.2
p.A259T
c.775G>A
1 paper
NM_001354483.2
p.N260D
c.778A>G
1 paper
NM_001354483.2
p.T261M
c.782C>T
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