Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.I263I

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.I263I
c.789C>T
Surrounding Variants
1 paper
NM_003781.4
p.P262R
c.785C>G
1 paper
NM_003781.4
p.E266Q
c.796G>C
4 papers
NM_003781.4
p.E266A
c.797A>C
1 paper
NM_003781.4
p.D267D
c.801T>C
1 paper
NM_003781.4
p.H259H
c.777C>T
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.V270I
c.808G>A
1 paper
NM_003781.4
p.V270V
c.810C>T
6 papers
NM_003781.4
p.G271R
c.811G>C
8 papers
NM_003781.4
p.G271R
c.811G>A
1 paper
NM_003781.4
p.E255fs
c.763_764fs
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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."