Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.W11_I12delins

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.W11_I12delins
c.33_34delinsCT
Surrounding Variants
1 paper
NM_001354483.2
p.W11R
c.31T>C
1 paper
NM_001354483.2
p.S13F
c.38C>T
1 paper
NM_001354483.2
p.S13delins
c.38_39delinsTT
2 papers
NM_001354483.2
p.R14W
c.40C>T
1 paper
NM_001354483.2
p.R14L
c.41G>T
1 paper
NM_001354483.2
p.V15A
c.44T>C
1 paper
NM_001354483.2
p.L8insFs
c.23dupT
1 paper
NM_001354483.2
p.G7E
c.20G>A
1 paper
NM_001354483.2
p.V17I
c.49G>A
2 papers
NM_001354483.2
p.R6Q
c.17G>A
1 paper
NM_001354483.2
p.R5L
c.14G>T
1 paper
NM_001354483.2
p.V4insFs
c.11dupT
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