Varaico: Literature-Extracted Genetic Variants

Gene:EPC1
Variant:p.K294R

EPC1

75 papers

RefSeq Summary

This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repr...

Pfam Domains

EPL1aa 7–149UCSCEnhancer of polycomb-like
EPL1aa 7–149UCSCEnhancer of polycomb-like
E_Pc_Caa 582–836UCSCEnhancer of Polycomb C-terminus

Gene Aliases

HGNC Name

enhancer of polycomb 1

HGNC Alias Symbol

Epl1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001272004.3
p.K294R
c.881A>G
Surrounding Variants
1 paper
NM_001272004.3
p.K294I
c.881A>T
2 papers
NM_001272004.3
p.M287I
c.861G>T
2 papers
NM_001272004.3
p.M287I
c.861G>C
2 papers
NM_001272004.3
p.M287I
c.861G>A
1 paper
NM_001272004.3
p.M287V
c.859A>G
1 paper
NM_001272004.3
p.E285D
c.855G>T
1 paper
NM_001272004.3
p.M283V
c.847A>G
1 paper
NM_001272004.3
p.G280*
c.838G>T
1 paper
NM_001272004.3
p.F310C
c.929T>G
1 paper
NM_001272004.3
p.Y273C
c.818A>G
1 paper
NM_001272004.3
p.K325N
c.975G>T
1 paper
NM_001272004.3
p.K325N
c.975G>C
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