Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT2
Variant:p.G205A

CSGALNACT2

42 papers

RefSeq Summary

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this...

Pfam Domains

CHGNaa 57–516UCSCChondroitin N-acetylgalactosaminyltransferase

Gene Aliases

HGNC Name

chondroitin sulfate N-acetylgalactosaminyltransferase 2

HGNC Alias Symbols

GALNACT2; MGC40204; PRO0082; GALNACT-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018590.5
p.G205A
c.614G>C
Surrounding Variants
1 paper
NM_018590.5
p.D217fs
c.649_650fs
1 paper
NM_018590.5
p.G221C
c.661G>T
1 paper
NM_018590.5
p.D175A
c.524A>C
1 paper
NM_018590.5
p.P147S
c.439C>T
1 paper
NM_018590.5
p.A116V
c.347C>T
1 paper
NM_018590.5
p.N112K
c.336C>G
1 paper
NM_018590.5
p.R94L
c.281G>T
1 paper
NM_018590.5
p.R94G
c.280C>G
1 paper
NM_018590.5
p.R77H
c.230G>A
1 paper
NM_018590.5
p.S74T
c.221G>C
1 paper
NM_018590.5
p.Y56F
c.167A>T
1 paper
NM_018590.5
p.E55V
c.164A>T
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