Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.I276fs

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
5 papers
NM_152490.5
p.I276fs
c.826_827fs
Surrounding Variants
2 papers
NM_152490.5
p.F275insFs
c.823dupT
8 papers
NM_152490.5
p.G274_F275insFs
c.822_823dupTT
1 paper
NM_152490.5
p.F275_I276insFs
c.825_826insAA
5 papers
NM_152490.5
p.I276fs
c.826_827fs
8 papers
NM_152490.5
p.V268M
c.802G>A
1 paper
NM_152490.5
p.A259fs
c.775_776fs
1 paper
NM_152490.5
p.E257insFs
c.770dupA
1 paper
NM_152490.5
p.T254_A255Splc
c.763-1G>A
2 papers
NM_152490.5
p.T254_A255Splc
c.763-3C>A
3 papers
NM_152490.5
p.T254_A255Splc
c.762+1G>A
8 papers
NM_152490.5
p.V252G
c.755T>G
1 paper
NM_001277155.3
p.R292T
c.875G>C
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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."