Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT4
Variant:p.F191L

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.F191L
c.571T>C
Surrounding Variants
1 paper
NM_030765.4
p.F191L
c.573C>A
1 paper
NM_030765.4
p.F191L
c.573C>G
1 paper
NM_030765.4
p.T187N
c.560C>A
1 paper
NM_030765.4
p.P209_H212delFs
c.626_636del11
1 paper
NM_030765.4
p.H212delFs
c.634_635delCA
1 paper
NM_030765.4
p.G160W
c.478G>T
1 paper
NM_030765.4
p.N227N
c.681C>T
1 paper
NM_030765.4
p.Q152*
c.454C>T
1 paper
NM_030765.4
p.E230*
c.688G>T
1 paper
NM_030765.4
p.G234_P237delFs
c.701_711del11
1 paper
NM_030765.4
p.W235fs
c.703_704fs
1 paper
NM_030765.4
p.W235fs
c.703_704fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."