Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.N424S

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
Selected Variant
1 paper
NM_012215.5
p.N424S
c.1271A>G
Surrounding Variants
1 paper
NM_012215.5
p.T426A
c.1276A>G
1 paper
NM_012215.5
p.T426I
c.1277C>T
1 paper
NM_012215.5
p.T426insFs
c.1277_1278ins4
1 paper
NM_012215.5
p.T426_T427insFs
c.1278_1279ins4
2 papers
NM_012215.5
p.T426_T427insFs
c.1278_1279ins4
1 paper
NM_012215.5
p.D413E
c.1239T>A
1 paper
NM_012215.5
p.D413A
c.1238A>C
2 papers
NM_012215.5
p.G446G
c.1338T>C
1 paper
NM_012215.5
p.T450delFs
c.1349delG
1 paper
NM_012215.5
p.E454Q
c.1360G>C
1 paper
NM_012215.5
p.E454K
c.1360G>A
1 paper
NM_012215.5
p.E456A
c.1367A>C
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