Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.L29L

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.L29L
c.87G>A
Surrounding Variants
1 paper
NM_012215.5
p.S28T
c.82T>A
1 paper
NM_012215.5
p.A27A
c.81A>T
1 paper
NM_012215.5
p.P32R
c.95C>G
2 papers
NM_012215.5
p.G26G
c.78G>A
1 paper
NM_012215.5
p.G26A
c.77G>C
1 paper
NM_012215.5
p.A25E
c.74C>A
1 paper
NM_012215.5
p.S24F
c.71C>T
1 paper
NM_012215.5
p.A36T
c.106G>A
1 paper
NM_012215.5
p.P37S
c.109C>T
1 paper
NM_012215.5
p.E39delFs
c.115delC
1 paper
NM_012215.5
p.S19P
c.55T>C
1 paper
NM_012215.5
p.L17V
c.49C>G
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