Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.F364S

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
2 papers
NM_145649.5
p.F364S
c.1091T>C
Surrounding Variants
1 paper
NM_145649.5
p.E369Q
c.1105G>C
2 papers
NM_145649.5
p.N359_S360insFs
c.1077_1078insG
3 papers
NM_145649.5
p.E369insFs
c.1106_1107insT
1 paper
NM_145649.5
p.E369D
c.1107G>C
1 paper
NM_145649.5
p.E369D
c.1107G>T
2 papers
NM_001491.3
p.L373F
c.1117C>T
1 paper
NM_145649.5
p.D353delFs
c.1058delA
9 papers
NM_001491.3
p.G348E
c.1043G>A
NM_145649.5
p.G350E
c.1049G>A
1 paper
NM_001491.3
p.Y347S
c.1040A>C
4 papers
NM_001491.3
p.Y347C
c.1040A>G
1 paper
NM_145649.5
p.I346_L354del9
c.1036_1061del27
3 papers
NM_145649.5
p.R383K
c.1148G>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."