Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.M119V

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.M119V
c.355A>G
Surrounding Variants
1 paper
NM_145649.5
p.Y118C
c.353A>G
1 paper
NM_145649.5
p.A116_Y118del0
c.346_354del9
1 paper
NM_145649.5
p.V123L
c.367G>C
1 paper
NM_145649.5
p.C125G
c.373T>G
1 paper
NM_145649.5
p.R112G
c.334A>G
1 paper
NM_145649.5
p.L128V
c.382C>G
1 paper
NM_145649.5
p.D129_Q130del2
c.385_389del6
1 paper
NM_145649.5
p.D129G
c.386A>G
1 paper
NM_145649.5
p.G108G
c.324C>A
1 paper
NM_145649.5
p.Q130R
c.389A>G
1 paper
NM_145649.5
p.D106V
c.317A>T
1 paper
NM_145649.5
p.A132V
c.395C>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."