Varaico: Literature-Extracted Genetic Variants

Gene:B4GAT1
Variant:p.N390D

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
Selected Variant
5 papers
NM_006876.3
p.N390D
c.1168A>G
Surrounding Variants
1 paper
NM_006876.3
p.Q385K
c.1153C>A
1 paper
NM_006876.3
p.P384P
c.1152C>G
1 paper
NM_006876.3
p.R398C
c.1192C>T
1 paper
NM_006876.3
p.Q402*
c.1204C>T
4 papers
NM_006876.3
p.E403*
c.1207G>T
3 papers
NM_006876.3
p.A406V
c.1217C>T
1 paper
NM_006876.3
p.A406D
c.1217C>A
1 paper
NM_006876.3
p.L366L
c.1096C>T
1 paper
NM_006876.3
p.R414R
c.1242C>T
1 paper
NM_006876.3
p.F361V
c.1081T>G
1 paper
NM_006876.3
p.F361L
c.1081T>C
1 paper
NM_006876.3
p.Q352*
c.1054C>T
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