Varaico: Literature-Extracted Genetic Variants

Gene:EOGT
Variant:p.L42delFs

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
1 paper
NM_001278689.2
p.L42delFs
c.124_125delAA
Surrounding Variants
2 papers
NM_001278689.2
p.R41L
c.122G>T
1 paper
NM_001278689.2
p.R41C
c.121C>T
1 paper
NM_001278689.2
p.H52R
c.155A>G
1 paper
NM_001278689.2
p.S28N
c.83G>A
1 paper
NM_001278689.2
p.I57V
c.169A>G
4 papers
NM_001278689.2
p.T26_H27delFs
c.78_81del4
2 papers
NM_001278689.2
p.H27fs
c.79_80fs
1 paper
NM_001278689.2
p.A58T
c.172G>A
1 paper
NM_001278689.2
p.H27fs
c.79_80fs
1 paper
NM_001278689.2
p.T59S
c.175A>T
1 paper
NM_001278689.2
p.T59S
c.176C>G
3 papers
NM_001278689.2
p.P24R
c.71C>G
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