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

2 papers

NM_181672.3

p.I734R

c.2201T>G

Surrounding Variants

1 paper

NM_181672.3

p.H728delFs

c.2184delC

2 papers

NM_181672.3

p.I721V

c.2161A>G

1 paper

NM_181672.3

p.K755_M756Splc

c.2265+1G>A

1 paper

NM_181672.3

p.K755_M756Splc

c.2265+4A>G

1 paper

NM_181672.3

p.A765T

c.2293G>A

1 paper

NM_181672.3

p.S693insFs

c.2078_2079insGA

1 paper

NM_181672.3

p.A785delFs

c.2355delA

1 paper

NM_181672.3

p.E788_N791delFs

c.2363_2373del11

2 papers

NM_181672.3

p.R792P

c.2375G>C

1 paper

NM_181672.3

p.P685Q

c.2054C>A

1 paper

NM_181672.3

p.N806S

c.2417A>G

1 paper

NM_181672.3

p.T668T

c.2004G>A