Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT3
Variant:p.V322A

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.V322A
c.965T>C
Surrounding Variants
1 paper
NM_014256.4
p.A324A
c.972T>G
2 papers
NM_014256.4
p.T319M
c.956C>T
4 papers
NM_014256.4
p.R328H
c.983G>A
1 paper
NM_014256.4
p.P311S
c.931C>T
1 paper
NM_014256.4
p.R338R
c.1012C>A
1 paper
NM_014256.4
p.R285H
c.854G>A
2 papers
NM_014256.4
p.R263W
c.787C>T
1 paper
NM_014256.4
p.E256Q
c.766G>C
2 papers
NM_014256.4
p.R246L
c.737G>T
1 paper
NM_014256.4
p.R246W
c.736C>T
1 paper
NM_014256.4
p.G236E
c.707G>A
1 paper
NM_014256.4
p.Q189_V190Splc
c.567+18C>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."