Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.R383K

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
3 papers
NM_145649.5
p.R383K
c.1148G>A
Surrounding Variants
2 papers
NM_145649.5
p.R385C
c.1153C>T
9 papers
NM_145649.5
p.R385H
c.1154G>A
NM_001491.3
p.R383H
c.1148G>A
1 paper
NM_145649.5
p.R387_T388delFs
c.1160_1163del4
1 paper
NM_145649.5
p.T388I
c.1163C>T
3 papers
NM_145649.5
p.N390_Q391delFs
c.1169_1172del4
NM_001491.3
p.N388_Q389delFs
c.1163_1166del4
2 papers
NM_001491.3
p.N388fs
c.1162_1163fs
NM_145649.5
p.N390fs
c.1168_1169fs
2 papers
NM_001491.3
p.L373F
c.1117C>T
1 paper
NM_145649.5
p.A395V
c.1184C>T
1 paper
NM_145649.5
p.E369D
c.1107G>C
1 paper
NM_145649.5
p.E369D
c.1107G>T
3 papers
NM_145649.5
p.E369insFs
c.1106_1107insT
1 paper
NM_145649.5
p.E369Q
c.1105G>C
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