Varaico: Literature-Extracted Genetic Variants

Gene:GCNT1
Variant:p.V62I

GCNT1

35 papers

RefSeq Summary

This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. Th...

Pfam Domains

Branchaa 123–392UCSCCore-2/I-Branching enzyme

Gene Aliases

HGNC Name

glucosaminyl (N-acetyl) transferase 1

HGNC Previous Symbol

NACGT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001490.5
p.V62I
c.184G>A
Surrounding Variants
1 paper
NM_001490.5
p.K61*
c.181A>T
1 paper
NM_001490.5
p.T60A
c.178A>G
1 paper
NM_001490.5
p.Q64*
c.190C>T
1 paper
NM_001490.5
p.K72insFs
c.215_216insG
2 papers
NM_001490.5
p.R85H
c.254G>A
1 paper
NM_001490.5
p.P86P
c.258T>G
1 paper
NM_001490.5
p.R87W
c.259C>T
1 paper
NM_001490.5
p.D92N
c.274G>A
1 paper
NM_001490.5
p.S30S
c.90C>T
1 paper
NM_001490.5
p.T97A
c.289A>G
1 paper
NM_001490.5
p.F19Y
c.56T>A
1 paper
NM_001490.5
p.V111V
c.333A>G
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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."