Varaico: Literature-Extracted Genetic Variants

Gene:B4GAT1
Variant:p.T253S

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.T253S
c.758C>G
Surrounding Variants
1 paper
NM_006876.3
p.T253I
c.758C>T
1 paper
NM_006876.3
p.T253S
c.757A>T
1 paper
NM_006876.3
p.A254T
c.760G>A
1 paper
NM_006876.3
p.W237C
c.711G>T
2 papers
NM_006876.3
p.W237C
c.711G>C
1 paper
NM_006876.3
p.E274fs
c.820_821fs
1 paper
NM_006876.3
p.E274insFs
c.821_822insTT
1 paper
NM_006876.3
p.D229N
c.685G>A
1 paper
NM_006876.3
p.D227N
c.679G>A
1 paper
NM_006876.3
p.P208delFs
c.624delG
1 paper
NM_006876.3
p.S311R
c.933C>G
1 paper
NM_006876.3
p.S311R
c.933C>A
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