Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.L149L

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.L149L
c.447A>G
Surrounding Variants
4 papers
NM_003781.4
p.D150G
c.449A>G
1 paper
NM_003781.4
p.D150D
c.450C>T
1 paper
NM_003781.4
p.F148V
c.442T>G
1 paper
NM_003781.4
p.Y152_N153insFs
c.456_457ins7
2 papers
NM_003781.4
p.Y152*
c.456T>G
2 papers
NM_003781.4
p.Y152*
c.456T>A
1 paper
NM_003781.4
p.R145Q
c.434G>A
4 papers
NM_003781.4
p.R145*
c.433C>T
1 paper
NM_003781.4
p.L155M
c.463C>A
1 paper
NM_003781.4
p.G141S
c.421G>A
1 paper
NM_003781.4
p.Y140*
c.420T>G
1 paper
NM_003781.4
p.Y140*
c.420T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."