Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.V28V

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.V28V
c.84C>A
Surrounding Variants
1 paper
NM_001354483.2
p.V28I
c.82G>A
1 paper
NM_001354483.2
p.Y30F
c.89A>T
1 paper
NM_001354483.2
p.C23S
c.67T>A
2 papers
NM_001354483.2
p.C34Y
c.101G>A
1 paper
NM_001354483.2
p.L21F
c.61C>T
1 paper
NM_001354483.2
p.L19P
c.56T>C
1 paper
NM_001354483.2
p.V17I
c.49G>A
1 paper
NM_001354483.2
p.E40V
c.119A>T
1 paper
NM_001354483.2
p.E40E
c.120G>A
1 paper
NM_001354483.2
p.E41D
c.123G>T
1 paper
NM_001354483.2
p.E41D
c.123G>C
1 paper
NM_001354483.2
p.V15A
c.44T>C
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