Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.S111C

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.S111C
c.331A>T
Surrounding Variants
1 paper
NM_001354483.2
p.E114D
c.342G>T
1 paper
NM_001354483.2
p.E114D
c.342G>C
1 paper
NM_001354483.2
p.L106P
c.317T>C
1 paper
NM_001354483.2
p.G105S
c.313G>A
1 paper
NM_001354483.2
p.D119N
c.355G>A
1 paper
NM_001354483.2
p.Y98Y
c.294C>T
1 paper
NM_001354483.2
p.L124delFs
c.372delC
1 paper
NM_001354483.2
p.H125fs
c.373_374fs
1 paper
NM_001354483.2
p.S126A
c.376T>G
1 paper
NM_001354483.2
p.S126T
c.376T>A
5 papers
NM_001354483.2
p.S126L
c.377C>T
1 paper
NM_001354483.2
p.Q127R
c.380A>G
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