Varaico: Literature-Extracted Genetic Variants

Gene:GCNT3
Variant:p.K167N

GCNT3

31 papers

RefSeq Summary

This gene encodes a member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on...

Pfam Domains

Branchaa 133–402UCSCCore-2/I-Branching enzyme

Gene Aliases

HGNC Name

glucosaminyl (N-acetyl) transferase 3, mucin type

HGNC Alias Symbols

C2GnT-M; C2/4GnT; C2GnT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004751.3
p.K167N
c.501G>T
Surrounding Variants
1 paper
NM_004751.3
p.K167N
c.501G>C
1 paper
NM_004751.3
p.A178G
c.533C>G
1 paper
NM_004751.3
p.Q157*
c.469C>T
1 paper
NM_004751.3
p.I180M
c.540T>G
1 paper
NM_004751.3
p.S181F
c.542C>T
2 papers
NM_004751.3
p.R151*
c.451C>T
1 paper
NM_004751.3
p.R194W
c.580C>T
1 paper
NM_004751.3
p.Y197F
c.590A>T
1 paper
NM_004751.3
p.K221T
c.662A>C
1 paper
NM_004751.3
p.M245V
c.733A>G
1 paper
NM_004751.3
p.G248G
c.744G>A
1 paper
NM_004751.3
p.A80A
c.240A>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."