Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.V232A

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.V232A
c.695T>C
Surrounding Variants
1 paper
NM_145649.5
p.V232I
c.694G>A
5 papers
NM_145649.5
p.R228Q
c.683G>A
1 paper
NM_145649.5
p.H224L
c.671A>T
1 paper
NM_145649.5
p.H224insFs
c.670_671insA
1 paper
NM_145649.5
p.S242insFs
c.724dupT
1 paper
NM_145649.5
p.D223A
c.668A>C
1 paper
NM_145649.5
p.N241S
c.722A>G
1 paper
NM_145649.5
p.D223delins
c.668_669delinsCT
1 paper
NM_145649.5
p.P222S
c.664C>T
1 paper
NM_145649.5
p.P221P
c.663T>C
1 paper
NM_145649.5
p.Y243_V244del1
c.729_731delCGT
1 paper
NM_145649.5
p.P221L
c.662C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."