Varaico: Literature-Extracted Genetic Variants

Gene:EOGT
Variant:p.E358delFs

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
10 papers
NM_001278689.2
p.E358delFs
c.1074delT
Surrounding Variants
1 paper
NM_001278689.2
p.G359*
c.1075G>T
7 papers
NM_001278689.2
p.G359fs
c.1075_1076fs
1 paper
NM_001278689.2
p.T356I
c.1067C>T
1 paper
NM_001278689.2
p.A344E
c.1031C>A
1 paper
NM_001278689.2
p.N338insFs
c.1013dupA
1 paper
NM_001278689.2
p.N338fs
c.1012_1013fs
1 paper
NM_001278689.2
p.F327insFs
c.980_981ins14
1 paper
NM_001278689.2
p.L326insFs
c.977_978ins10
1 paper
NM_001278689.2
p.L326insFs
c.977_978ins14
1 paper
NM_001278689.2
p.Y324insFs
c.971_972ins14
1 paper
NM_001278689.2
p.L318*
c.953T>A
1 paper
NM_001278689.2
p.R308_V309Splc
c.925-2A>C
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