Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT2
Variant:p.Q52P

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
Selected Variant
1 paper
NM_001159387.2
p.Q52P
c.155A>C
Surrounding Variants
1 paper
NM_001159387.2
p.Q52*
c.154C>T
1 paper
NM_001159387.2
p.K55*
c.163A>T
1 paper
NM_001159387.2
p.E60*
c.178G>T
1 paper
NM_001159387.2
p.R63K
c.188G>A
2 papers
NM_001159387.2
p.R63T
c.188G>C
1 paper
NM_001159387.2
p.R63M
c.188G>T
2 papers
NM_001159387.2
p.P40H
c.119C>A
1 paper
NM_001159387.2
p.F32C
c.95T>G
1 paper
NM_001159387.2
p.F26Y
c.77T>A
1 paper
NM_001159387.2
p.I18M
c.54C>G
1 paper
NM_001159387.2
p.I14M
c.42A>G
1 paper
NM_001159387.2
p.Q78P
c.233A>C
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