Varaico: Literature-Extracted Genetic Variants

Gene:EPC1
Variant:p.H53L

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.H53L
c.158A>T
Surrounding Variants
1 paper
NM_001272004.3
p.A61T
c.181G>A
1 paper
NM_001272004.3
p.E67*
c.199G>T
1 paper
NM_001272004.3
p.I74M
c.222A>G
1 paper
NM_001272004.3
p.H102N
c.304C>A
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