Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.A406T

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.A406T
c.1216G>A
Surrounding Variants
1 paper
NM_152490.5
p.P408fs
c.1222_1223fs
1 paper
NM_152490.5
p.P408delFs
c.1223delG
1 paper
NM_152490.5
p.P403S
c.1207C>T
3 papers
NM_152490.5
p.G395R
c.1183G>C
4 papers
NM_152490.5
p.G395R
c.1183G>A
1 paper
NM_152490.5
p.V417V
c.1251G>A
1 paper
NM_152490.5
p.W425*
c.1274G>A
1 paper
NM_152490.5
p.W425fs
c.1273_1274fs
1 paper
NM_152490.5
p.W425*
c.1275G>A
1 paper
NM_152490.5
p.W425_L426Fs
c.1275_1278delinsCCTFs
5 papers
NM_152490.5
p.Y436C
c.1307A>G
1 paper
NM_152490.5
p.Q437_G438Splc
c.1311+1G>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."