Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.V60_L61delins

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.V60_L61delins
c.180_181delinsAA
Surrounding Variants
1 paper
NM_001354483.2
p.E63*
c.187G>T
1 paper
NM_001354483.2
p.W64R
c.190T>A
1 paper
NM_001354483.2
p.E65K
c.193G>A
1 paper
NM_001354483.2
p.R69H
c.206G>A
1 paper
NM_001354483.2
p.N49I
c.146A>T
1 paper
NM_001354483.2
p.N49D
c.145A>G
1 paper
NM_001354483.2
p.S74C
c.220A>T
1 paper
NM_001354483.2
p.S74fs
c.220_221fs
1 paper
NM_001354483.2
p.K76R
c.227A>G
1 paper
NM_001354483.2
p.R77Q
c.230G>A
1 paper
NM_001354483.2
p.Q42H
c.126G>T
1 paper
NM_001354483.2
p.Q42H
c.126G>C
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