Varaico: Literature-Extracted Genetic Variants

Gene:EPN3

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
1–12 of 91 variants
4 papers
NM_017957.3
p.M552T
c.1655T>C
2 papers
NM_017957.3
p.R25C
c.73C>T
2 papers
NM_017957.3
p.R25H
c.74G>A
2 papers
NM_017957.3
p.R180Q
c.539G>A
2 papers
NM_017957.3
p.V229insFs
c.686_687insC
1 paper
NM_017957.3
p.R8H
c.23G>A
1 paper
NM_017957.3
p.K23E
c.67A>G
1 paper
NM_017957.3
p.V24M
c.70G>A
1 paper
NM_017957.3
p.E26K
c.76G>A
1 paper
NM_017957.3
p.G34insFs
c.101_102insC
1 paper
NM_017957.3
p.P36A
c.106C>G
1 paper
NM_017957.3
p.M40T
c.119T>C
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