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.L367F

c.1101A>C

Surrounding Variants

1 paper

NM_181672.3

p.L367F

c.1101A>T

1 paper

NM_181672.3

p.Q372del1

c.1114_1116delCAG

1 paper

NM_181672.3

p.Q372*

c.1114C>T

1 paper

NM_181672.3

p.L377L

c.1129C>T

1 paper

NM_181672.3

p.E355_V356Splc

c.1066-1G>A

1 paper

NM_181672.3

p.A380V

c.1139C>T

1 paper

NM_181672.3

p.M401T

c.1202T>C

1 paper

NM_181672.3

p.C417Y

c.1250G>A

1 paper

NM_181672.3

p.T419M

c.1256C>T

1 paper

NM_181672.3

p.N425I

c.1274A>T

1 paper

NM_181672.3

p.D430V

c.1289A>T

2 papers

NM_181672.3

p.A431V

c.1292C>T