Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT4
Variant:p.L19insFs

B3GNT4

40 papers

RefSeq Summary

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neo...

Pfam Domains

Galactosyl_Taa 132–323UCSCGalactosyltransferase

Gene Aliases

HGNC Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4

HGNC Alias Symbols

B3GN-T4; beta3Gn-T4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030765.4
p.L19insFs
c.55dupC
Surrounding Variants
1 paper
NM_030765.4
p.G18C
c.52G>T
1 paper
NM_030765.4
p.G15S
c.43G>A
1 paper
NM_030765.4
p.Q11*
c.31C>T
1 paper
NM_030765.4
p.H10_Q11ins9
c.28_32ins27
3 papers
NM_030765.4
p.P6A
c.16C>G
1 paper
NM_030765.4
p.P4ins3
c.10_11ins9
1 paper
NM_030765.4
p.K22_G23Splc
c.67-24G>A
1 paper
NM_030765.4
p.G23_R29insFs
c.68_87dup20
1 paper
NM_030765.4
p.G23G
c.69A>T
1 paper
NM_030765.4
p.R29ins2
c.85_86ins6
1 paper
NM_030765.4
p.R29R
c.87G>A
1 paper
NM_030765.4
p.H80fs
c.238_239fs
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