Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.Y186F

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.Y186F
c.557A>T
Surrounding Variants
1 paper
NM_145649.5
p.I188I
c.564C>T
1 paper
NM_145649.5
p.N189K
c.567C>A
1 paper
NM_145649.5
p.N189K
c.567C>G
2 papers
NM_145649.5
p.A179T
c.535G>A
1 paper
NM_145649.5
p.F195L
c.583T>C
1 paper
NM_145649.5
p.F195C
c.584T>G
1 paper
NM_145649.5
p.F195L
c.585T>A
1 paper
NM_145649.5
p.F195L
c.585T>G
1 paper
NM_145649.5
p.L197M
c.589C>A
1 paper
NM_145649.5
p.L197P
c.590T>C
1 paper
NM_145649.5
p.R201W
c.601A>T
1 paper
NM_145649.5
p.L171P
c.512T>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."