Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT5
Variant:p.D60N

B3GNT5

32 papers

RefSeq Summary

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates an...

Pfam Domains

Galactosyl_Taa 102–301UCSCGalactosyltransferase

Gene Aliases

HGNC Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5

HGNC Alias Symbols

B3GN-T5; beta3Gn-T5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032047.5
p.D60N
c.178G>A
Surrounding Variants
1 paper
NM_032047.5
p.V58A
c.173T>C
1 paper
NM_032047.5
p.P34L
c.101C>T
1 paper
NM_032047.5
p.F30fs
c.88_89fs
1 paper
NM_032047.5
p.M29V
c.85A>G
1 paper
NM_032047.5
p.T96N
c.287C>A
1 paper
NM_032047.5
p.E99K
c.295G>A
1 paper
NM_032047.5
p.S105Y
c.314C>A
2 papers
NM_032047.5
p.R2K
c.5G>A
2 papers
NM_032047.5
p.R118Q
c.353G>A
1 paper
NM_032047.5
p.S119C
c.356C>G
1 paper
NM_032047.5
p.N154H
c.460A>C
1 paper
NM_032047.5
p.D155H
c.463G>C
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