Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.E462D

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.E462D
c.1386A>C
Surrounding Variants
1 paper
NM_012215.5
p.E462D
c.1386A>T
4 papers
NM_012215.5
p.E462V
c.1385A>T
1 paper
NM_012215.5
p.M467T
c.1400T>C
1 paper
NM_012215.5
p.E456A
c.1367A>C
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.T450delFs
c.1349delG
1 paper
NM_012215.5
p.T475R
c.1424C>G
1 paper
NM_012215.5
p.H477delFs
c.1430_1431delGT
2 papers
NM_012215.5
p.G446G
c.1338T>C
1 paper
NM_012215.5
p.N479H
c.1435A>C
2 papers
NM_012215.5
p.L484P
c.1451T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."