Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.P384R

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
7 papers
NM_001354483.2
p.P384R
c.1151C>G
Surrounding Variants
1 paper
NM_001354483.2
p.P392A
c.1174C>G
1 paper
NM_001354483.2
p.Y396*
c.1188C>G
1 paper
NM_001354483.2
p.Y396*
c.1188C>A
1 paper
NM_001354483.2
p.D400G
c.1199A>G
1 paper
NM_001354483.2
p.P404S
c.1210C>T
1 paper
NM_001354483.2
p.L409_V410Splc
c.1227+9T>G
1 paper
NM_001354483.2
p.T375I
c.1124C>T
1 paper
NM_001354483.2
p.R372S
c.1116G>T
1 paper
NM_001354483.2
p.R372S
c.1116G>C
1 paper
NM_001354483.2
p.D341N
c.1021G>A
1 paper
NM_001354483.2
p.R336Q
c.1007G>A
1 paper
NM_001354483.2
p.E333Q
c.997G>C
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