Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.D432Y

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
2 papers
NM_001354483.2
p.D432Y
c.1294G>T
Surrounding Variants
1 paper
NM_001354483.2
p.E414G
c.1241A>G
1 paper
NM_001354483.2
p.K413del1
c.1237_1238delCTT
1 paper
NM_001354483.2
p.L409_V410Splc
c.1228-2A>G
1 paper
NM_001354483.2
p.G445V
c.1334G>T
1 paper
NM_001354483.2
p.E449D
c.1347G>T
1 paper
NM_001354483.2
p.E449D
c.1347G>C
1 paper
NM_001354483.2
p.V451M
c.1351G>A
1 paper
NM_001354483.2
p.H452R
c.1355A>G
1 paper
NM_001354483.2
p.L462I
c.1384C>A
1 paper
NM_001354483.2
p.R466L
c.1397G>T
1 paper
NM_001354483.2
p.T467T
c.1401G>A
1 paper
NM_001354483.2
p.V469M
c.1405G>A
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