Varaico: Literature-Extracted Genetic Variants

Gene:EPC1
Variant:p.N205H

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.N205H
c.613A>C
Surrounding Variants
1 paper
NM_001272004.3
p.R214L
c.641G>T
1 paper
NM_001272004.3
p.I191T
c.572T>C
1 paper
NM_001272004.3
p.R221*
c.661C>T
1 paper
NM_001272004.3
p.P188P
c.564A>G
2 papers
NM_001272004.3
p.N184fs
c.550_551fs
1 paper
NM_001272004.3
p.N184insFs
c.551dupA
1 paper
NM_001272004.3
p.N184delFs
c.550_551delTT
1 paper
NM_001272004.3
p.R182G
c.544A>G
1 paper
NM_001272004.3
p.R224H
c.671G>A
1 paper
NM_001272004.3
p.L261L
c.781C>T
1 paper
NM_001272004.3
p.E122G
c.365A>G
1 paper
NM_001272004.3
p.D121H
c.361G>C
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