Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.L484Q

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
2 papers
NM_012215.5
p.L484Q
c.1451T>A
Surrounding Variants
2 papers
NM_012215.5
p.L484P
c.1451T>C
1 paper
NM_012215.5
p.S485N
c.1454G>A
1 paper
NM_012215.5
p.N479H
c.1435A>C
1 paper
NM_012215.5
p.H477delFs
c.1430_1431delGT
1 paper
NM_012215.5
p.T475R
c.1424C>G
1 paper
NM_012215.5
p.E495Q
c.1483G>C
1 paper
NM_012215.5
p.M499I
c.1497G>C
1 paper
NM_012215.5
p.M467T
c.1400T>C
1 paper
NM_012215.5
p.D502N
c.1504G>A
1 paper
NM_012215.5
p.S505N
c.1514G>A
1 paper
NM_012215.5
p.E462D
c.1386A>T
1 paper
NM_012215.5
p.E462D
c.1386A>C
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