Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.Q42H

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.Q42H
c.126G>T
Surrounding Variants
1 paper
NM_001354483.2
p.Q42H
c.126G>C
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.E40E
c.120G>A
1 paper
NM_001354483.2
p.E40V
c.119A>T
1 paper
NM_001354483.2
p.N49D
c.145A>G
1 paper
NM_001354483.2
p.N49I
c.146A>T
2 papers
NM_001354483.2
p.C34Y
c.101G>A
1 paper
NM_001354483.2
p.Y30F
c.89A>T
1 paper
NM_001354483.2
p.V28V
c.84C>A
1 paper
NM_001354483.2
p.V28I
c.82G>A
1 paper
NM_001354483.2
p.V60_L61delins
c.180_181delinsAA
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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."