Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1

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
1–12 of 161 variants
7 papers
NM_001354483.2
p.P384R
c.1151C>G
5 papers
NM_001354483.2
p.S126L
c.377C>T
4 papers
NM_001354483.2
p.S193N
c.578G>A
4 papers
NM_001354483.2
p.H234R
c.701A>G
4 papers
NM_001354483.2
p.N264S
c.791A>G
4 papers
NM_001354483.2
p.M509R
c.1526T>G
2 papers
NM_001354483.2
p.R6Q
c.17G>A
2 papers
NM_001354483.2
p.R14W
c.40C>T
2 papers
NM_001354483.2
p.C34Y
c.101G>A
2 papers
NM_001354483.2
p.R202H
c.605G>A
2 papers
NM_001354483.2
p.D219G
c.656A>G
2 papers
NM_001354483.2
p.D432Y
c.1294G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."