Varaico: Literature-Extracted Genetic Variants

Gene:EPN3
Variant:p.G382fs

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.G382fs
c.1144_1145fs
Surrounding Variants
1 paper
NM_017957.3
p.P383insFs
c.1147dupC
1 paper
NM_017957.3
p.P383delFs
c.1147delC
1 paper
NM_017957.3
p.T385I
c.1154C>T
1 paper
NM_017957.3
p.P377A
c.1129C>G
1 paper
NM_017957.3
p.W373*
c.1119G>A
1 paper
NM_017957.3
p.W373*
c.1118G>A
1 paper
NM_017957.3
p.N392_S393delFs
c.1176_1177delCT
1 paper
NM_017957.3
p.K397_T401delFs
c.1189_1202del14
1 paper
NM_017957.3
p.K397fs
c.1189_1190fs
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
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