Varaico: Literature-Extracted Genetic Variants

Gene:EOGT
Variant:p.R377Q

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
14 papers
NM_001278689.2
p.R377Q
c.1130G>A
NM_173654.3
p.R293Q
c.878G>A
Surrounding Variants
1 paper
NM_001278689.2
p.R377W
c.1129C>T
1 paper
NM_001278689.2
p.N381delFs
c.1141delT
1 paper
NM_001278689.2
p.R372delFs
c.1115_1116delCC
2 papers
NM_001278689.2
p.R372W
c.1114C>T
1 paper
NM_001278689.2
p.L370F
c.1108C>T
1 paper
NM_001278689.2
p.K361_D362Splc
c.1084-14C>G
1 paper
NM_001278689.2
p.K361_D362Splc
c.1084-19C>T
1 paper
NM_001278689.2
p.G359*
c.1075G>T
10 papers
NM_001278689.2
p.E358delFs
c.1074delT
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
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