Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.F95C

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.F95C
c.284T>G
Surrounding Variants
1 paper
NM_145649.5
p.F95V
c.283T>G
1 paper
NM_145649.5
p.E92D
c.276G>C
1 paper
NM_145649.5
p.E92D
c.276G>T
1 paper
NM_145649.5
p.E92Q
c.274G>C
1 paper
NM_145649.5
p.V101A
c.302T>C
1 paper
NM_145649.5
p.V101V
c.303G>C
1 paper
NM_145649.5
p.S89fs
c.265_266fs
4 papers
NM_145649.5
p.T102S
c.304A>T
1 paper
NM_145649.5
p.L88L
c.264C>T
4 papers
NM_145649.5
p.T102S
c.305C>G
1 paper
NM_145649.5
p.L88I
c.262C>A
1 paper
NM_145649.5
p.L88F
c.262C>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."