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.T12A

c.34A>G

Surrounding Variants

1 paper

NM_181672.3

p.E13Q

c.37G>C

1 paper

NM_181672.3

p.E13Splc

c.37+1G>A

2 papers

NM_181672.3

p.D10A

c.29A>C

1 paper

NM_181672.3

p.T15S

c.43A>T

1 paper

NM_181672.3

p.R17G

c.49C>G

1 paper

NM_181672.3

p.R17C

c.49C>T

1 paper

NM_181672.3

p.L19H

c.56T>A

1 paper

NM_181672.3

p.S20T

c.58T>A

1 paper

NM_181672.3

p.H29Q

c.87T>A

1 paper

NM_181672.3

p.R30L

c.89G>T

1 paper

NM_181672.3

p.Q33H

c.99G>C

1 paper

NM_181672.3

p.Q33H

c.99G>T