Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.R496G

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.R496G
c.1486C>G
Surrounding Variants
1 paper
NM_152490.5
p.C497R
c.1489T>C
1 paper
NM_152490.5
p.W485delFs
c.1453_1454delCA
1 paper
NM_152490.5
p.P478L
c.1433C>T
5 papers
NM_152490.5
p.P474del1
c.1420_1421delAGG
11 papers
NM_152490.5
p.Q475*
c.1423C>T
1 paper
NM_152490.5
p.C462R
c.1384T>C
1 paper
NM_152490.5
p.Q456_D457Splc
c.1369-1G>C
1 paper
NM_152490.5
p.Q456_D457Splc
c.1368+1G>A
1 paper
NM_152490.5
p.S442_Q456delFs
c.1324_1367del44
1 paper
NM_152490.5
p.W446*
c.1338G>A
1 paper
NM_152490.5
p.W446*
c.1337G>A
1 paper
NM_152490.5
p.S442fs
c.1324_1325fs
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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."