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.D495E

c.1485C>G

Surrounding Variants

1 paper

NM_181672.3

p.D495E

c.1485C>A

1 paper

NM_181672.3

p.K488M

c.1463A>T

1 paper

NM_181672.3

p.D481G

c.1442A>G

1 paper

NM_181672.3

p.D478N

c.1432G>A

1 paper

NM_181672.3

p.I523V

c.1567A>G

1 paper

NM_181672.3

p.G528D

c.1583G>A

1 paper

NM_181672.3

p.Q474_I475Splc

c.1422+1G>A

1 paper

NM_181672.3

p.S451C

c.1352C>G

2 papers

NM_181672.3

p.A431V

c.1292C>T

1 paper

NM_181672.3

p.D430V

c.1289A>T

1 paper

NM_181672.3

p.N425I

c.1274A>T

1 paper

NM_181672.3

p.T419M

c.1256C>T