Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.H97R

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.H97R
c.290A>G
Surrounding Variants
1 paper
NM_152490.5
p.P102S
c.304C>T
5 papers
NM_152490.5
p.V103fs
c.307_308fs
1 paper
NM_152490.5
p.V103fs
c.307_308fs
3 papers
NM_152490.5
p.V103delFs
c.308_309delCA
1 paper
NM_152490.5
p.V88fs
c.262_263fs
1 paper
NM_152490.5
p.R87Splc
c.261-1G>A
7 papers
NM_152490.5
p.R87Splc
c.261-2A>G
2 papers
NM_152490.5
p.P109S
c.325C>T
NM_001277155.3
p.P150S
c.448C>T
1 paper
NM_152490.5
p.Y110*
c.330T>G
1 paper
NM_152490.5
p.Y110*
c.330T>A
1 paper
NM_152490.5
p.S111Y
c.332C>A
1 paper
NM_152490.5
p.S137L
c.410C>T
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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."