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

13 papers

NM_181672.3

p.A259T

c.775G>A

Surrounding Variants

1 paper

NM_181672.3

p.N257N

c.771T>C

24 papers

NM_181672.3

p.L254F

c.762G>C

NM_181673.3

p.L244F

c.732G>C

24 papers

NM_181672.3

p.L254F

c.762G>T

NM_181673.3

p.L244F

c.732G>T

1 paper

NM_181672.3

p.R250L

c.749G>T

1 paper

NM_181672.3

p.R250C

c.748C>T

2 papers

NM_181672.3

p.I279V

c.835A>G

20 papers

NM_181672.3

p.R284P

c.851G>C

1 paper

NM_181672.3

p.P293H

c.878C>A

2 papers

NM_181672.3

p.D242A

c.725A>C

1 paper

NM_181672.3

p.D242N

c.724G>A

1 paper

NM_181672.3

p.F241I

c.721T>A

1 paper

NM_181672.3

p.I240S

c.719T>G