Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.L289F

B3GALNT2

106 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced trans...

Pfam Domains

Galactosyl_Taa 302–458UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-N-acetylgalactosaminyltransferase 2

HGNC Alias Symbol

MGC39558

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152490.5
p.L289F
c.865C>T
Surrounding Variants
9 papers
NM_152490.5
p.R292P
c.875G>C
1 paper
NM_152490.5
p.E281Splc
c.842-1G>C
1 paper
NM_152490.5
p.L309V
c.925T>G
3 papers
NM_152490.5
p.A308_L309del2
c.922_926del6
10 papers
NM_152490.5
p.D327N
c.979G>A
5 papers
NM_152490.5
p.R330C
c.988C>T
1 paper
NM_152490.5
p.R330P
c.989G>C
1 paper
NM_152490.5
p.L337insFs
c.1010dupT
1 paper
NM_152490.5
p.T347M
c.1040C>T
4 papers
NM_152490.5
p.L351*
c.1052T>A
1 paper
NM_152490.5
p.T355del1
c.1063_1064delTGT
6 papers
NM_152490.5
p.D356insFs
c.1068dupT
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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."