Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
1 paper
NM_145649.5
p.M1T
c.2T>C
1 paper
NM_145649.5
p.M2V
c.4A>G
6 papers
NM_145649.5
p.W5*
c.14G>A
5 papers
NM_145649.5
p.W5*
c.15G>A
1 paper
NM_145649.5
p.L9insFs
c.25_26insC
1 paper
NM_145649.5
p.L9L
c.27T>G
1 paper
NM_145649.5
p.S11T
c.32G>C
1 paper
NM_145649.5
p.A12T
c.34G>A
1 paper
NM_145649.5
p.A12V
c.35C>T
1 paper
NM_145649.5
p.L14H
c.41T>A
1 paper
NM_145649.5
p.A17del1
c.49_51delGCC
2 papers
NM_145649.5
p.F20delFs
c.60delT
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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."