Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT3
Variant:p.E133Q

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
1 paper
NM_014256.4
p.E133Q
c.397G>C
Surrounding Variants
1 paper
NM_014256.4
p.R132R
c.396C>T
1 paper
NM_014256.4
p.R132delFs
c.395delG
1 paper
NM_014256.4
p.V136V
c.408A>T
1 paper
NM_014256.4
p.T129M
c.386C>T
1 paper
NM_014256.4
p.R137Q
c.410G>A
1 paper
NM_014256.4
p.V121M
c.361G>A
1 paper
NM_014256.4
p.G148S
c.442G>A
1 paper
NM_014256.4
p.E155*
c.463G>T
1 paper
NM_014256.4
p.L110L
c.330G>C
1 paper
NM_014256.4
p.K158*
c.472A>T
1 paper
NM_014256.4
p.P106L
c.317C>T
1 paper
NM_014256.4
p.A104A
c.312G>A
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