Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.D274E

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.D274E
c.822C>G
Surrounding Variants
1 paper
NM_001354483.2
p.D274E
c.822C>A
1 paper
NM_001354483.2
p.R277P
c.830G>C
1 paper
NM_001354483.2
p.R272G
c.814A>G
1 paper
NM_001354483.2
p.F283Y
c.848T>A
1 paper
NM_001354483.2
p.N264K
c.792T>G
1 paper
NM_001354483.2
p.N264K
c.792T>A
4 papers
NM_001354483.2
p.N264S
c.791A>G
1 paper
NM_001354483.2
p.T261M
c.782C>T
1 paper
NM_001354483.2
p.N260D
c.778A>G
1 paper
NM_001354483.2
p.A259T
c.775G>A
1 paper
NM_001354483.2
p.L256L
c.768C>T
1 paper
NM_001354483.2
p.K252T
c.755A>C
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