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

12 papers

NM_181672.3

p.N648Y

c.1942A>T

Surrounding Variants

1 paper

NM_181672.3

p.L653I

c.1957C>A

1 paper

NM_181672.3

p.L653V

c.1957C>G

1 paper

NM_181672.3

p.L653F

c.1957C>T

1 paper

NM_181672.3

p.P657L

c.1970C>T

1 paper

NM_181672.3

p.I658V

c.1972A>G

1 paper

NM_181672.3

p.R627C

c.1879C>T

1 paper

NM_181672.3

p.T668T

c.2004G>A

1 paper

NM_181672.3

p.P685Q

c.2054C>A

1 paper

NM_181672.3

p.S693insFs

c.2078_2079insGA

2 papers

NM_181672.3

p.I721V

c.2161A>G

1 paper

NM_181672.3

p.H728delFs

c.2184delC

2 papers

NM_181672.3

p.I734R

c.2201T>G