Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.S25fs

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.S25fs
c.73_74fs
Surrounding Variants
1 paper
NM_152490.5
p.S25insFs
c.73dupT
5 papers
NM_152490.5
p.L17_S25insFs
c.51_73dup23
1 paper
NM_152490.5
p.S25fs
c.73_74fs
1 paper
NM_152490.5
p.W20*
c.60G>A
1 paper
NM_152490.5
p.W20*
c.59G>A
2 papers
NM_152490.5
p.L17fs
c.49_50fs
1 paper
NM_152490.5
p.S32F
c.95C>T
1 paper
NM_152490.5
p.L17fs
c.49_50fs
3 papers
NM_152490.5
p.A16insFs
c.48dupG
1 paper
NM_152490.5
p.G14V
c.41G>T
2 papers
NM_152490.5
p.G14R
c.40G>C
1 paper
NM_152490.5
p.G14R
c.40G>A
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