Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT3
Variant:p.H91H

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.H91H
c.273C>T
Surrounding Variants
1 paper
NM_014256.4
p.R90H
c.269G>A
1 paper
NM_014256.4
p.P93L
c.278C>T
1 paper
NM_014256.4
p.D97H
c.289G>C
1 paper
NM_014256.4
p.D97D
c.291C>T
1 paper
NM_014256.4
p.P100T
c.298C>A
1 paper
NM_014256.4
p.A104A
c.312G>A
1 paper
NM_014256.4
p.P106L
c.317C>T
1 paper
NM_014256.4
p.L110L
c.330G>C
1 paper
NM_014256.4
p.A63fs
c.187_188fs
1 paper
NM_014256.4
p.V121M
c.361G>A
1 paper
NM_014256.4
p.C61R
c.181T>C
1 paper
NM_014256.4
p.C61del1
c.181_182delTGC
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