Varaico: Literature-Extracted Genetic Variants

Gene:B4GAT1
Variant:p.V318E

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.V318E
c.953T>A
Surrounding Variants
1 paper
NM_006876.3
p.P315T
c.943C>A
1 paper
NM_006876.3
p.R314Q
c.941G>A
1 paper
NM_006876.3
p.S311R
c.933C>G
1 paper
NM_006876.3
p.S311R
c.933C>A
1 paper
NM_006876.3
p.F328L
c.982T>C
1 paper
NM_006876.3
p.F328L
c.984C>G
1 paper
NM_006876.3
p.F328L
c.984C>A
1 paper
NM_006876.3
p.G333R
c.997G>C
1 paper
NM_006876.3
p.K334Q
c.1000A>C
1 paper
NM_006876.3
p.Q352*
c.1054C>T
1 paper
NM_006876.3
p.E274insFs
c.821_822insTT
1 paper
NM_006876.3
p.E274fs
c.820_821fs
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