Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.R173S

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.R173S
c.519G>T
Surrounding Variants
1 paper
NM_001354483.2
p.R173S
c.519G>C
1 paper
NM_001354483.2
p.V172E
c.515T>A
1 paper
NM_001354483.2
p.P171S
c.511C>T
1 paper
NM_001354483.2
p.R177W
c.529C>T
1 paper
NM_001354483.2
p.T164A
c.490A>G
1 paper
NM_001354483.2
p.L163F
c.487C>T
1 paper
NM_001354483.2
p.G162G
c.486C>T
1 paper
NM_001354483.2
p.E189K
c.565G>A
1 paper
NM_001354483.2
p.Q158P
c.473A>C
1 paper
NM_001354483.2
p.T190A
c.568A>G
4 papers
NM_001354483.2
p.S193N
c.578G>A
1 paper
NM_001354483.2
p.A195T
c.583G>A
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