Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.R33H

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.R33H
c.98G>A
Surrounding Variants
1 paper
NM_145649.5
p.F34Y
c.101T>A
1 paper
NM_145649.5
p.R36S
c.108G>C
1 paper
NM_145649.5
p.R36S
c.108G>T
1 paper
NM_145649.5
p.A38S
c.112G>T
1 paper
NM_145649.5
p.A38A
c.114T>C
2 papers
NM_145649.5
p.N41S
c.122A>G
1 paper
NM_145649.5
p.N25_T26insC
c.73_77ins3
1 paper
NM_145649.5
p.S43_L44delFs
c.129_130delAC
1 paper
NM_145649.5
p.L44Q
c.131T>A
1 paper
NM_145649.5
p.F22S
c.65T>C
1 paper
NM_145649.5
p.A46T
c.136G>A
1 paper
NM_145649.5
p.F20L
c.60T>A
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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."