Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.W326*

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
6 papers
NM_001491.3
p.W326*
c.977G>A
NM_145649.5
p.W328*
c.983G>A
Surrounding Variants
4 papers
NM_001491.3
p.W326*
c.978G>A
NM_145649.5
p.W328*
c.984G>A
1 paper
NM_145649.5
p.S329G
c.985A>G
1 paper
NM_145649.5
p.S329I
c.986G>T
1 paper
NM_145649.5
p.K327E
c.979A>G
1 paper
NM_145649.5
p.R324S
c.972A>C
1 paper
NM_145649.5
p.R324S
c.972A>T
1 paper
NM_145649.5
p.E332Q
c.994G>C
1 paper
NM_145649.5
p.G321E
c.962G>A
6 papers
NM_001491.3
p.G334R
c.1000G>A
NM_145649.5
p.G336R
c.1006G>A
4 papers
NM_001491.3
p.G334R
c.1000G>C
NM_145649.5
p.G336R
c.1006G>C
1 paper
NM_145649.5
p.W319*
c.956G>A
5 papers
NM_145649.5
p.G312D
c.935G>A
NM_001491.3
p.G310D
c.929G>A
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