Varaico: Literature-Extracted Genetic Variants

Gene:EOGT

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
1–12 of 120 variants
14 papers
NM_001278689.2
p.R377Q
c.1130G>A
10 papers
NM_001278689.2
p.E358delFs
c.1074delT
8 papers
NM_001278689.2
p.W207S
c.620G>C
7 papers
NM_001278689.2
p.G359fs
c.1075_1076fs
5 papers
NM_001278689.2
p.W207S
c.620G>C
4 papers
NM_001278689.2
p.T26_H27delFs
c.78_81del4
4 papers
NM_001278689.2
p.W104Splc
c.311+1G>T
4 papers
NM_001278689.2
p.C135Y
c.404G>A
3 papers
NM_001278689.2
p.P24R
c.71C>G
3 papers
NM_001278689.2
p.K188*
c.562A>T
2 papers
NM_001278689.2
p.H27fs
c.79_80fs
2 papers
NM_001278689.2
p.R41L
c.122G>T
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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."