Varaico: Literature-Extracted Genetic Variants

Gene:EPN3
Variant:p.V229insFs

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
2 papers
NM_017957.3
p.V229insFs
c.686_687insC
Surrounding Variants
1 paper
NM_017957.3
p.V229fs
c.685_686fs
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
1 paper
NM_017957.3
p.V274D
c.821T>A
1 paper
NM_017957.3
p.E285delFs
c.854_855delAA
1 paper
NM_017957.3
p.L293fs
c.877_878fs
1 paper
NM_017957.3
p.L293delFs
c.879delA
1 paper
NM_017957.3
p.Q213L
c.638A>T
1 paper
NM_017957.3
p.E210*
c.628G>T
1 paper
NM_017957.3
p.P204L
c.611C>T
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