Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.L69P

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.L69P
c.206T>C
Surrounding Variants
1 paper
NM_145649.5
p.T68I
c.203C>T
1 paper
NM_145649.5
p.K66E
c.196A>G
1 paper
NM_145649.5
p.T73I
c.218C>T
1 paper
NM_145649.5
p.C74R
c.220T>C
1 paper
NM_145649.5
p.C74G
c.220T>G
1 paper
NM_145649.5
p.N63K
c.189T>G
1 paper
NM_145649.5
p.Y75C
c.224A>G
1 paper
NM_145649.5
p.E76K
c.226G>A
2 papers
NM_145649.5
p.V79L
c.235G>C
1 paper
NM_145649.5
p.R80*
c.238C>T
2 papers
NM_145649.5
p.R80Q
c.239G>A
1 paper
NM_145649.5
p.V57F
c.169G>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."