Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.L233delFs

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.L233delFs
c.699delA
Surrounding Variants
1 paper
NM_152490.5
p.V234M
c.700G>A
1 paper
NM_152490.5
p.V234fs
c.700_701fs
1 paper
NM_152490.5
p.W225delFs
c.673_674delCA
4 papers
NM_152490.5
p.V243fs
c.727_728fs
4 papers
NM_152490.5
p.T242_V243delFs
c.726_727delCT
1 paper
NM_152490.5
p.D245G
c.734A>G
1 paper
NM_152490.5
p.T222A
c.664A>G
1 paper
NM_152490.5
p.G247A
c.740G>C
10 papers
NM_152490.5
p.G247E
c.740G>A
1 paper
NM_152490.5
p.F219_E220insFs
c.657_658insTT
1 paper
NM_152490.5
p.E220fs
c.658_659fs
1 paper
NM_152490.5
p.G248A
c.743G>C
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