Varaico: Literature-Extracted Genetic Variants

Gene:EPN3
Variant:p.E174K

EPN3

52 papers

Pfam Domains

ENTHaa 17–140UCSCENTH domain
UIMaa 209–225UCSCUbiquitin interaction motif
UIMaa 236–252UCSCUbiquitin interaction motif

Gene Aliases

HGNC Name

epsin 3

HGNC Alias Symbols

FLJ20778; MGC129899

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017957.3
p.E174K
c.520G>A
Surrounding Variants
1 paper
NM_017957.3
p.R171H
c.512G>A
1 paper
NM_017957.3
p.R171C
c.511C>T
1 paper
NM_017957.3
p.R170C
c.508C>T
1 paper
NM_017957.3
p.R180G
c.538C>G
2 papers
NM_017957.3
p.R180Q
c.539G>A
1 paper
NM_017957.3
p.R153H
c.458G>A
1 paper
NM_017957.3
p.A147T
c.439G>A
1 paper
NM_017957.3
p.R144Q
c.431G>A
1 paper
NM_017957.3
p.R144*
c.430C>T
1 paper
NM_017957.3
p.R139W
c.415C>T
1 paper
NM_017957.3
p.G116S
c.346G>A
1 paper
NM_017957.3
p.Y111H
c.331T>C
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