Varaico: Literature-Extracted Genetic Variants

Gene:B4GAT1

B4GAT1

70 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 is essential for the synthesis of poly-N-acetyllactosamine, a dete...

Pfam Domains

Glyco_transf_49aa 94–409UCSCGlycosyl-transferase for dystroglycan

Gene Aliases

HGNC Name

beta-1,4-glucuronyltransferase 1

HGNC Previous Symbol

B3GNT1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
5 papers
NM_006876.3
p.N390D
c.1168A>G
4 papers
NM_006876.3
p.E403*
c.1207G>T
3 papers
NM_006876.3
p.D169N
c.505G>A
3 papers
NM_006876.3
p.A406V
c.1217C>T
2 papers
NM_006876.3
p.P51L
c.152C>T
2 papers
NM_006876.3
p.G71D
c.212G>A
2 papers
NM_006876.3
p.P119T
c.355C>A
2 papers
NM_006876.3
p.M155T
c.464T>C
2 papers
NM_006876.3
p.W237C
c.711G>C
1 paper
NM_006876.3
p.M1L
c.1A>T
1 paper
NM_006876.3
p.M1L
c.1A>C
1 paper
NM_006876.3
p.M3L
c.7A>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."