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

11 papers

NM_181672.3

p.N567K

c.1701T>A

Surrounding Variants

11 papers

NM_181672.3

p.N567K

c.1701T>G

1 paper

NM_181672.3

p.T570A

c.1708A>G

1 paper

NM_181673.3

p.D554N

c.1660G>A

2 papers

NM_181672.3

p.S576A

c.1726T>G

1 paper

NM_181672.3

p.G598S

c.1792G>A

1 paper

NM_181672.3

p.G598A

c.1793G>C

1 paper

NM_181672.3

p.K604R

c.1811A>G

1 paper

NM_181672.3

p.N610S

c.1829A>G

1 paper

NM_181672.3

p.H611N

c.1831C>A

1 paper

NM_181672.3

p.G528D

c.1583G>A

1 paper

NM_181672.3

p.I523V

c.1567A>G

1 paper

NM_181672.3

p.D495E

c.1485C>A