Varaico: Literature-Extracted Genetic Variants

Gene:EOGT
Variant:p.Y78_G81del4

EOGT

74 papers

RefSeq Summary

This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This...

Pfam Domains

Glyco_transf_61aa 246–443UCSCGlycosyltransferase 61

Gene Aliases

HGNC Name

EGF domain specific O-linked N-acetylglucosamine transferase

HGNC Previous Symbol

C3orf64

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001278689.2
p.Y78_G81del4
c.232_242del12
Surrounding Variants
1 paper
NM_001278689.2
p.G93C
c.277G>T
4 papers
NM_001278689.2
p.W104Splc
c.311+1G>T
1 paper
NM_001278689.2
p.T105M
c.314C>T
1 paper
NM_001278689.2
p.A124_R125del2
c.370_374del6
1 paper
NM_001278689.2
p.C135fs
c.403_404fs
4 papers
NM_001278689.2
p.C135Y
c.404G>A
1 paper
NM_001278689.2
p.E139K
c.415G>A
2 papers
NM_001278689.2
p.K70_K71Splc
c.210+5G>A
1 paper
NM_001278689.2
p.K70E
c.208A>G
1 paper
NM_001278689.2
p.P68A
c.202C>G
1 paper
NM_001278689.2
p.D64E
c.192C>G
1 paper
NM_001278689.2
p.D64E
c.192C>A
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