Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.V146M

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.V146M
c.436G>A
Surrounding Variants
1 paper
NM_001354483.2
p.A144fs
c.430_431fs
1 paper
NM_001354483.2
p.P147P
c.441T>A
1 paper
NM_001354483.2
p.E142Q
c.424G>C
1 paper
NM_001354483.2
p.A140T
c.418G>A
1 paper
NM_001354483.2
p.A135D
c.404C>A
1 paper
NM_001354483.2
p.Q158P
c.473A>C
1 paper
NM_001354483.2
p.E132Q
c.394G>C
1 paper
NM_001354483.2
p.G162G
c.486C>T
1 paper
NM_001354483.2
p.D129A
c.386A>C
1 paper
NM_001354483.2
p.L163F
c.487C>T
1 paper
NM_001354483.2
p.T164A
c.490A>G
1 paper
NM_001354483.2
p.Q127H
c.381G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."