Varaico: Literature-Extracted Genetic Variants

Gene:EOGT
Variant:p.P24R

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
3 papers
NM_001278689.2
p.P24R
c.71C>G
Surrounding Variants
1 paper
NM_001278689.2
p.H27fs
c.79_80fs
2 papers
NM_001278689.2
p.H27fs
c.79_80fs
4 papers
NM_001278689.2
p.T26_H27delFs
c.78_81del4
1 paper
NM_001278689.2
p.S28N
c.83G>A
1 paper
NM_001278689.2
p.Q19L
c.56A>T
1 paper
NM_001278689.2
p.S17N
c.50G>A
1 paper
NM_001278689.2
p.R41C
c.121C>T
2 papers
NM_001278689.2
p.R41L
c.122G>T
1 paper
NM_001278689.2
p.L42delFs
c.124_125delAA
1 paper
NM_001278689.2
p.M3I
c.9G>T
1 paper
NM_001278689.2
p.M3I
c.9G>C
1 paper
NM_001278689.2
p.M3I
c.9G>A
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