Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.M509R

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
4 papers
NM_001354483.2
p.M509R
c.1526T>G
Surrounding Variants
1 paper
NM_001354483.2
p.V511G
c.1532T>G
1 paper
NM_001354483.2
p.F512L
c.1534T>C
1 paper
NM_001354483.2
p.F512L
c.1536C>G
1 paper
NM_001354483.2
p.F512L
c.1536C>A
1 paper
NM_001354483.2
p.G505S
c.1513G>A
1 paper
NM_001354483.2
p.H514Y
c.1540C>T
1 paper
NM_001354483.2
p.H504Y
c.1510C>T
1 paper
NM_001354483.2
p.R521P
c.1562G>C
1 paper
NM_001354483.2
p.R521H
c.1562G>A
1 paper
NM_001354483.2
p.T532T
c.1596A>G
1 paper
NM_001354483.2
p.E478Q
c.1432G>C
1 paper
NM_001354483.2
p.L475L
c.1425C>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."