Varaico: Literature-Extracted Genetic Variants

Gene:OGA

OGA

360 papers

RefSeq Summary

The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which ad...

Pfam Domains

NAGidaseaa 62–360UCSCbeta-N-acetylglucosaminidase

Gene Aliases

HGNC Name

O-GlcNAcase

HGNC Previous Symbol

MGEA5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 206 variants
15 papers
NM_012215.5
p.D175N
c.523G>A
5 papers
NM_012215.5
p.Y891F
c.2672A>T
4 papers
NM_012215.5
p.M1T
c.2T>C
4 papers
NM_012215.5
p.D175A
c.524A>C
4 papers
NM_012215.5
p.D285A
c.854A>C
4 papers
NM_012215.5
p.E462V
c.1385A>T
4 papers
NM_012215.5
p.S652F
c.1955C>T
3 papers
NM_012215.5
p.E114K
c.340G>A
3 papers
NM_012215.5
p.D174N
c.520G>A
3 papers
NM_012215.5
p.D177N
c.529G>A
3 papers
NM_012215.5
p.Y766Y
c.2298C>T
2 papers
NM_012215.5
p.M1insFs
c.2dupT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."