Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.P251L

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
2 papers
NM_003781.4
p.P251L
c.752C>T
Surrounding Variants
1 paper
NM_003781.4
p.P251S
c.751C>T
2 papers
NM_003781.4
p.Y254H
c.760T>C
1 paper
NM_003781.4
p.Y254C
c.761A>G
2 papers
NM_003781.4
p.R247K
c.740G>A
1 paper
NM_003781.4
p.E255delFs
c.763delC
1 paper
NM_003781.4
p.E255fs
c.763_764fs
1 paper
NM_003781.4
p.S246P
c.736T>C
2 papers
NM_003781.4
p.M245insFs
c.733_734insG
2 papers
NM_003781.4
p.G258R
c.772G>C
1 paper
NM_003781.4
p.G258S
c.772G>A
1 paper
NM_003781.4
p.I244T
c.731T>C
1 paper
NM_003781.4
p.I244K
c.731T>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."