Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT2
Variant:p.D245A

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
2 papers
NM_006577.6
p.D245A
c.734A>C
Surrounding Variants
2 papers
NM_006577.6
p.D247H
c.739G>C
1 paper
NM_006577.6
p.D247A
c.740A>C
1 paper
NM_006577.6
p.R229K
c.686G>A
1 paper
NM_006577.6
p.V275M
c.823G>A
1 paper
NM_006577.6
p.A279G
c.836C>G
1 paper
NM_006577.6
p.A279V
c.836C>T
1 paper
NM_006577.6
p.D284G
c.851A>G
1 paper
NM_006577.6
p.K285E
c.853A>G
1 paper
NM_006577.6
p.Y289F
c.866A>T
2 papers
NM_006577.6
p.P186T
c.556C>A
1 paper
NM_006577.6
p.Q184H
c.552G>C
1 paper
NM_006577.6
p.Q184H
c.552G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."