Varaico: Literature-Extracted Genetic Variants

Gene:EOGT
Variant:p.K188*

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.K188*
c.562A>T
Surrounding Variants
2 papers
NM_001278689.2
p.K188I
c.563A>T
1 paper
NM_001278689.2
p.T195M
c.584C>T
1 paper
NM_001278689.2
p.F178delFs
c.533delA
1 paper
NM_001278689.2
p.F178fs
c.532_533fs
1 paper
NM_001278689.2
p.F177C
c.530T>G
1 paper
NM_001278689.2
p.R200insFs
c.600dupC
1 paper
NM_001278689.2
p.R172K
c.515G>A
5 papers
NM_001278689.2
p.W207S
c.620G>C
1 paper
NM_001278689.2
p.W207Splc
c.620+27C>T
1 paper
NM_001278689.2
p.N169D
c.505A>G
1 paper
NM_001278689.2
p.D162Y
c.484G>T
2 papers
NM_001278689.2
p.R155R
c.465A>G
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