Varaico: Literature-Extracted Genetic Variants

Gene:EPN3
Variant:p.S351fs

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.S351fs
c.1051_1052fs
Surrounding Variants
1 paper
NM_017957.3
p.S351delFs
c.1053delA
1 paper
NM_017957.3
p.P350S
c.1048C>T
1 paper
NM_017957.3
p.R357L
c.1070G>T
1 paper
NM_017957.3
p.W361R
c.1081T>A
1 paper
NM_017957.3
p.W361R
c.1081T>C
1 paper
NM_017957.3
p.M366I
c.1098G>A
1 paper
NM_017957.3
p.M366I
c.1098G>C
1 paper
NM_017957.3
p.M366I
c.1098G>T
1 paper
NM_017957.3
p.R329M
c.986G>T
1 paper
NM_017957.3
p.W373*
c.1118G>A
1 paper
NM_017957.3
p.W373*
c.1119G>A
1 paper
NM_017957.3
p.P377A
c.1129C>G
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