Varaico: Literature-Extracted Genetic Variants

Gene:B4GAT1
Variant:p.D148E

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
1 paper
NM_006876.3
p.D148E
c.444C>G
Surrounding Variants
1 paper
NM_006876.3
p.D148E
c.444C>A
2 papers
NM_006876.3
p.M155T
c.464T>C
1 paper
NM_006876.3
p.L157L
c.471C>T
1 paper
NM_006876.3
p.S161A
c.481T>G
1 paper
NM_006876.3
p.S161W
c.482C>G
3 papers
NM_006876.3
p.D169N
c.505G>A
2 papers
NM_006876.3
p.P119T
c.355C>A
1 paper
NM_006876.3
p.R180R
c.540G>A
1 paper
NM_006876.3
p.V192V
c.576G>A
1 paper
NM_006876.3
p.A193T
c.577G>A
1 paper
NM_006876.3
p.S102R
c.306C>G
1 paper
NM_006876.3
p.T99M
c.296C>T
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