Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT3
Variant:p.D180_F182del3

B3GNT3

74 papers

RefSeq Summary

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the subst...

Pfam Domains

Galactosyl_Taa 121–315UCSCGalactosyltransferase

Gene Aliases

HGNC Name

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

HGNC Alias Symbols

B3GN-T3; beta3Gn-T3; HP10328; B3GNT-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014256.4
p.D180_F182del3
c.538_545del9
Surrounding Variants
2 papers
NM_014256.4
p.L174_Q175del2
c.520_524del6
1 paper
NM_014256.4
p.T186T
c.558G>A
1 paper
NM_014256.4
p.Q168_T169del2
c.502_506del6
1 paper
NM_014256.4
p.A167V
c.500C>T
1 paper
NM_014256.4
p.Q189_V190Splc
c.567+18C>T
1 paper
NM_014256.4
p.K158*
c.472A>T
1 paper
NM_014256.4
p.E155*
c.463G>T
1 paper
NM_014256.4
p.G148S
c.442G>A
1 paper
NM_014256.4
p.R137Q
c.410G>A
1 paper
NM_014256.4
p.V136V
c.408A>T
1 paper
NM_014256.4
p.E133Q
c.397G>C
1 paper
NM_014256.4
p.R132R
c.396C>T
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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."