Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.P217S

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.P217S
c.649C>T
Surrounding Variants
1 paper
NM_145649.5
p.I215N
c.644T>A
1 paper
NM_145649.5
p.N214_V219delFs
c.640_656del17
1 paper
NM_145649.5
p.K213R
c.638A>G
1 paper
NM_145649.5
p.K213E
c.637A>G
1 paper
NM_145649.5
p.P221L
c.662C>T
1 paper
NM_145649.5
p.G212G
c.636G>A
1 paper
NM_145649.5
p.G212A
c.635G>C
1 paper
NM_145649.5
p.P221P
c.663T>C
1 paper
NM_145649.5
p.P222S
c.664C>T
3 papers
NM_145649.5
p.G212R
c.634G>A
2 papers
NM_145649.5
p.G212R
c.634G>C
1 paper
NM_145649.5
p.D223A
c.668A>C
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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."