Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2

GCNT2

187 papers

RefSeq Summary

This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The en...

Pfam Domains

Branchaa 97–358UCSCCore-2/I-Branching enzyme

Gene Aliases

HGNC Name

glucosaminyl

HGNC Previous Symbols

NACGT1; II; GCNT5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 288 variants
7 papers
NM_145649.5
p.A169T
c.505G>A
7 papers
NM_145649.5
p.G350E
c.1049G>A
7 papers
NM_145649.5
p.R385H
c.1154G>A
6 papers
NM_145649.5
p.W5*
c.14G>A
5 papers
NM_145649.5
p.W5*
c.15G>A
5 papers
NM_145649.5
p.R228Q
c.683G>A
5 papers
NM_145649.5
p.E298K
c.892G>A
5 papers
NM_145649.5
p.W328*
c.983G>A
5 papers
NM_145649.5
p.G336R
c.1006G>A
4 papers
NM_145649.5
p.T102S
c.304A>T
4 papers
NM_145649.5
p.T102S
c.305C>G
4 papers
NM_145649.5
p.G312D
c.935G>A
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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."