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.P154_D155Splc

c.463-466T>G

Surrounding Variants

1 paper

NM_181672.3

p.P154_D155Splc

c.463-6T>G

1 paper

NM_181672.3

p.L156V

c.466T>G

1 paper

NM_181672.3

p.L156*

c.467T>A

3 papers

NM_181672.3

p.R172H

c.515G>A

2 papers

NM_181672.3

p.Y180C

c.539A>G

1 paper

NM_181672.3

p.T186A

c.556A>G

1 paper

NM_181672.3

p.F190L

c.570T>A

2 papers

NM_181672.3

p.N196K

c.588T>A

2 papers

NM_181672.3

p.N196K

c.588T>G

1 paper

NM_181672.3

p.V200I

c.598G>A

1 paper

NM_181672.3

p.E206A

c.617A>C

1 paper

NM_181672.3

p.L209F

c.625C>T