Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.L351*

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
4 papers
NM_152490.5
p.L351*
c.1052T>A
Surrounding Variants
1 paper
NM_152490.5
p.T347M
c.1040C>T
1 paper
NM_152490.5
p.T355del1
c.1063_1064delTGT
6 papers
NM_152490.5
p.D356insFs
c.1068dupT
1 paper
NM_152490.5
p.W381*
c.1142G>A
1 paper
NM_152490.5
p.W381*
c.1143G>A
1 paper
NM_152490.5
p.W382R
c.1144T>C
1 paper
NM_152490.5
p.W382R
c.1144T>A
4 papers
NM_152490.5
p.N384Splc
c.1151+1G>A
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.P403S
c.1207C>T
1 paper
NM_152490.5
p.A406T
c.1216G>A
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