Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.N534K

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.N534K
c.1602C>A
Surrounding Variants
1 paper
NM_012215.5
p.D530N
c.1588G>A
1 paper
NM_012215.5
p.P540P
c.1620A>G
1 paper
NM_012215.5
p.A550V
c.1649C>T
1 paper
NM_012215.5
p.E518delFs
c.1552delC
1 paper
NM_012215.5
p.Q517insFs
c.1549_1550insC
1 paper
NM_012215.5
p.E508A
c.1523A>C
1 paper
NM_012215.5
p.S505N
c.1514G>A
1 paper
NM_012215.5
p.Y566H
c.1696T>C
1 paper
NM_012215.5
p.D502N
c.1504G>A
1 paper
NM_012215.5
p.M499I
c.1497G>C
1 paper
NM_012215.5
p.E495Q
c.1483G>C
1 paper
NM_012215.5
p.A576T
c.1726G>A
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