Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT2
Variant:p.D333N

B3GNT2

54 papers

RefSeq Summary

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in t...

Pfam Domains

Galactosyl_Taa 156–351UCSCGalactosyltransferase

Gene Aliases

HGNC Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2

HGNC Previous Symbol

B3GNT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006577.6
p.D333N
c.997G>A
Surrounding Variants
1 paper
NM_006577.6
p.D333A
c.998A>C
2 papers
NM_006577.6
p.D332A
c.995A>C
1 paper
NM_006577.6
p.D333E
c.999C>A
1 paper
NM_006577.6
p.D333E
c.999C>G
1 paper
NM_006577.6
p.T336I
c.1007C>T
1 paper
NM_006577.6
p.I322F
c.964A>T
1 paper
NM_006577.6
p.Y311F
c.932A>T
1 paper
NM_006577.6
p.K361delFs
c.1081delA
1 paper
NM_006577.6
p.K361fs
c.1081_1082fs
1 paper
NM_006577.6
p.S368F
c.1103C>T
1 paper
NM_006577.6
p.H376L
c.1127A>T
1 paper
NM_006577.6
p.Y289F
c.866A>T
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