Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT2
Variant:p.R482Q

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.R482Q
c.1445G>A
Surrounding Variants
1 paper
NM_001159387.2
p.R488Q
c.1463G>A
1 paper
NM_001159387.2
p.Q490H
c.1470G>T
1 paper
NM_153446.3
p.E530E
c.1590A>G
3 papers
NM_153446.3
p.R523W
c.1567C>T
NM_001159387.2
p.R463W
c.1387C>T
1 paper
NM_001159387.2
p.V450L
c.1348G>C
1 paper
NM_001159387.2
p.V450L
c.1348G>T
1 paper
NM_001159387.2
p.T447N
c.1340C>A
1 paper
NM_001159387.2
p.H437Y
c.1309C>T
1 paper
NM_001159387.2
p.R422Q
c.1265G>A
6 papers
NM_153446.3
p.C466R
c.1396T>C
NM_001159387.2
p.C406R
c.1216T>C
1 paper
NM_001159387.2
p.P404S
c.1210C>T
1 paper
NM_001159387.2
p.Q398P
c.1193A>C
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