Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.A283P

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.A283P
c.847G>C
Surrounding Variants
1 paper
NM_145649.5
p.L282F
c.844C>T
1 paper
NM_145649.5
p.L284F
c.850C>T
1 paper
NM_145649.5
p.Q281P
c.842A>C
1 paper
NM_145649.5
p.Q281*
c.841C>T
1 paper
NM_145649.5
p.L286L
c.858A>G
1 paper
NM_145649.5
p.L287insFs
c.860dupT
1 paper
NM_145649.5
p.Q279*
c.835C>T
1 paper
NM_145649.5
p.L287R
c.860T>G
1 paper
NM_145649.5
p.S288P
c.862T>C
1 paper
NM_145649.5
p.S288fs
c.862_863fs
1 paper
NM_145649.5
p.S288Y
c.863C>A
1 paper
NM_145649.5
p.F276L
c.828C>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."