Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT2

B4GALNT2

58 papers

RefSeq Summary

B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue subst...

Pfam Domains

Glycos_transf_2aa 324–474UCSCGlycosyl transferase family 2

Gene Aliases

HGNC Name

beta-1,4-N-acetyl-galactosaminyltransferase 2

HGNC Previous Symbol

GALGT2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
4 papers
NM_001159387.2
p.C406R
c.1216T>C
3 papers
NM_153446.3
p.C466R
c.1396T>C
2 papers
NM_001159387.2
p.P40H
c.119C>A
2 papers
NM_001159387.2
p.R63T
c.188G>C
2 papers
NM_001159387.2
p.L380L
c.1138T>C
2 papers
NM_001159387.2
p.R463W
c.1387C>T
1 paper
NM_001159387.2
p.G5C
c.13G>T
1 paper
NM_001159387.2
p.I14M
c.42A>G
1 paper
NM_001159387.2
p.I18M
c.54C>G
1 paper
NM_001159387.2
p.F26Y
c.77T>A
1 paper
NM_001159387.2
p.F32C
c.95T>G
1 paper
NM_001159387.2
p.Q52*
c.154C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."