Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.H282R

B3GALNT1

57 papers

RefSeq Summary

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor sub...

Pfam Domains

Galactosyl_Taa 92–285UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-N-acetylgalactosaminyltransferase 1

HGNC Previous Symbol

B3GALT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003781.4
p.H282R
c.845A>G
Surrounding Variants
1 paper
NM_003781.4
p.H282Y
c.844C>T
1 paper
NM_003781.4
p.I283T
c.848T>C
1 paper
NM_003781.4
p.N280N
c.840C>T
1 paper
NM_003781.4
p.N280D
c.838A>G
1 paper
NM_003781.4
p.T287T
c.861A>G
1 paper
NM_003781.4
p.L276F
c.828A>T
1 paper
NM_003781.4
p.L276F
c.828A>C
1 paper
NM_003781.4
p.L289V
c.865C>G
1 paper
NM_003781.4
p.N288_L289delins
c.864_865delinsCG
2 papers
NM_003781.4
p.L292_Y293insA
c.874_878ins3
6 papers
NM_003781.4
p.G271R
c.811G>C
8 papers
NM_003781.4
p.G271R
c.811G>A
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