Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.I260V

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.I260V
c.778A>G
Surrounding Variants
1 paper
NM_145649.5
p.V259insFs
c.776_777insG
1 paper
NM_145649.5
p.M258V
c.772A>G
1 paper
NM_145649.5
p.D257A
c.770A>C
1 paper
NM_145649.5
p.H256H
c.768T>C
1 paper
NM_145649.5
p.P255L
c.764C>T
1 paper
NM_145649.5
p.P254S
c.760C>T
1 paper
NM_145649.5
p.P253L
c.758C>T
1 paper
NM_145649.5
p.V267M
c.799G>A
1 paper
NM_145649.5
p.V267G
c.800T>G
1 paper
NM_145649.5
p.T252N
c.755C>A
1 paper
NM_145649.5
p.L250L
c.750A>G
1 paper
NM_145649.5
p.D272E
c.816C>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."