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

1–12 of 168 variants

23 papers

NM_181672.3

p.L254F

c.762G>C

23 papers

NM_181672.3

p.L254F

c.762G>T

20 papers

NM_181672.3

p.R284P

c.851G>C

16 papers

NM_181672.3

p.A319T

c.955G>A

13 papers

NM_181672.3

p.A259T

c.775G>A

12 papers

NM_181672.3

p.E339G

c.1016A>G

12 papers

NM_181672.3

p.N648Y

c.1942A>T

11 papers

NM_181672.3

p.N567K

c.1701T>A

11 papers

NM_181672.3

p.N567K

c.1701T>G

8 papers

NM_181672.3

p.C921Y

c.2762G>A

3 papers

NM_181672.3

p.R172H

c.515G>A

2 papers

NM_181672.3

p.D10A

c.29A>C