Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.V302A

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
Selected Variant
1 paper
NM_145649.5
p.V302A
c.905T>C
Surrounding Variants
1 paper
NM_145649.5
p.L304F
c.910C>T
5 papers
NM_145649.5
p.E298K
c.892G>A
1 paper
NM_145649.5
p.P296S
c.886C>T
1 paper
NM_145649.5
p.G309S
c.925G>A
1 paper
NM_145649.5
p.G309Splc
c.925+1G>C
1 paper
NM_145649.5
p.S295G
c.883A>G
1 paper
NM_145649.5
p.Y294F
c.881A>T
1 paper
NM_145649.5
p.G309Splc
c.925+5G>A
1 paper
NM_145649.5
p.T293T
c.879C>T
1 paper
NM_145649.5
p.T293I
c.878C>T
1 paper
NM_145649.5
p.K291T
c.872A>C
1 paper
NM_145649.5
p.S290Y
c.869C>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."