Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.L311F

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.L311F
c.931C>T
Surrounding Variants
1 paper
NM_012215.5
p.P314P
c.942A>G
1 paper
NM_012215.5
p.R306W
c.916C>T
1 paper
NM_012215.5
p.E319Q
c.955G>C
1 paper
NM_012215.5
p.E319K
c.955G>A
1 paper
NM_012215.5
p.E302Q
c.904G>C
1 paper
NM_012215.5
p.A320V
c.959C>T
1 paper
NM_012215.5
p.N321S
c.962A>G
1 paper
NM_012215.5
p.L293L
c.879G>A
1 paper
NM_012215.5
p.A329T
c.985G>A
1 paper
NM_012215.5
p.Y332D
c.994T>G
1 paper
NM_012215.5
p.D287A
c.860A>C
1 paper
NM_012215.5
p.D287N
c.859G>A
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