Varaico: Literature-Extracted Genetic Variants

Gene:EPN3
Variant:p.E210*

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.E210*
c.628G>T
Surrounding Variants
1 paper
NM_017957.3
p.Q213L
c.638A>T
1 paper
NM_017957.3
p.P204L
c.611C>T
1 paper
NM_017957.3
p.S188Splc
c.563-1G>T
1 paper
NM_017957.3
p.V229fs
c.685_686fs
2 papers
NM_017957.3
p.V229insFs
c.686_687insC
1 paper
NM_017957.3
p.R235K
c.704G>A
1 paper
NM_017957.3
p.E237*
c.709G>T
1 paper
NM_017957.3
p.S248I
c.743G>T
1 paper
NM_017957.3
p.V256L
c.766G>T
2 papers
NM_017957.3
p.R180Q
c.539G>A
1 paper
NM_017957.3
p.R180G
c.538C>G
1 paper
NM_017957.3
p.E174K
c.520G>A
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