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.P942L

c.2825C>T

Surrounding Variants

1 paper

NM_181672.3

p.T931A

c.2791A>G

1 paper

NM_181672.3

p.T931del1

c.2791_2792delACC

8 papers

NM_181672.3

p.C921Y

c.2762G>A

1 paper

NM_181672.3

p.C921S

c.2762G>C

1 paper

NM_181672.3

p.C921S

c.2761T>A

1 paper

NM_181672.3

p.R899C

c.2695C>T

1 paper

NM_181672.3

p.N898S

c.2693A>G

1 paper

NM_181672.3

p.Y889F

c.2666A>T

1 paper

NM_181672.3

p.Q887E

c.2659C>G

1 paper

NM_181672.3

p.P879L

c.2636C>T

1 paper

NM_181672.3

p.V872L

c.2614G>C

1 paper

NM_181672.3

p.V872L

c.2614G>T