Varaico: Literature-Extracted Genetic Variants

OGT

174 papers

RefSeq Summary

This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylatio...

Pfam Domains

TPR_11aa 96–137UCSCTPR repeat

TPR_8aa 160–190UCSCTetratricopeptide repeat

TPR_1aa 191–224UCSCTetratricopeptide repeat

TPR_8aa 225–258UCSCTetratricopeptide repeat

TPR_1aa 259–292UCSCTetratricopeptide repeat

TPR_12aa 292–359UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

O-linked N-acetylglucosamine (GlcNAc) transferase

HGNC Alias Symbols

O-GLCNAC; HRNT1; MGC22921; FLJ23071; OGT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181672.3

p.A327insFs

c.980_981ins14

Surrounding Variants

1 paper

NM_181672.3

p.H326insFs

c.977_978ins10

1 paper

NM_181672.3

p.H326insFs

c.977_978ins14

1 paper

NM_181672.3

p.S329T

c.985T>A

1 paper

NM_181672.3

p.P324insFs

c.971_972ins14

1 paper

NM_181672.3

p.L322M

c.964C>A

1 paper

NM_181672.3

p.N335S

c.1004A>G

16 papers

NM_181672.3

p.A319T

c.955G>A

1 paper

NM_181672.3

p.Y316F

c.947A>T

12 papers

NM_181672.3

p.E339G

c.1016A>G

1 paper

NM_181672.3

p.G341V

c.1022G>T

1 paper

NM_181672.3

p.E311K

c.931G>A

1 paper

NM_181672.3

p.A310V

c.929C>T