Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT2
Variant:p.S30T

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.S30T
c.89G>C
Surrounding Variants
1 paper
NM_006577.6
p.E34K
c.100G>A
1 paper
NM_006577.6
p.G39R
c.115G>A
1 paper
NM_006577.6
p.G39R
c.115G>C
1 paper
NM_006577.6
p.A17S
c.49G>T
1 paper
NM_006577.6
p.I51V
c.151A>G
1 paper
NM_006577.6
p.P54L
c.161C>T
2 papers
NM_006577.6
p.R6*
c.16C>T
1 paper
NM_006577.6
p.S2G
c.4A>G
1 paper
NM_006577.6
p.R61*
c.181C>T
1 paper
NM_006577.6
p.E64D
c.192G>C
1 paper
NM_006577.6
p.E64D
c.192G>T
1 paper
NM_006577.6
p.G82W
c.244G>T
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