Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.S242insFs

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.S242insFs
c.724dupT
Surrounding Variants
1 paper
NM_145649.5
p.N241S
c.722A>G
1 paper
NM_145649.5
p.Y243_V244del1
c.729_731delCGT
1 paper
NM_145649.5
p.V244M
c.730G>A
1 paper
NM_145649.5
p.V244fs
c.730_731fs
1 paper
NM_145649.5
p.T247A
c.739A>G
1 paper
NM_145649.5
p.T247I
c.740C>T
1 paper
NM_145649.5
p.V232A
c.695T>C
1 paper
NM_145649.5
p.L250L
c.750A>G
1 paper
NM_145649.5
p.V232I
c.694G>A
1 paper
NM_145649.5
p.T252N
c.755C>A
1 paper
NM_145649.5
p.P253L
c.758C>T
1 paper
NM_145649.5
p.P254S
c.760C>T
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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."