Varaico: Literature-Extracted Genetic Variants

Gene:EPN3
Variant:p.G529Splc

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.G529Splc
c.1585+2T>C
Surrounding Variants
1 paper
NM_017957.3
p.R523fs
c.1567_1568fs
1 paper
NM_017957.3
p.R523_P525delFs
c.1568_1575del8
1 paper
NM_017957.3
p.K488*
c.1462A>T
1 paper
NM_017957.3
p.S487R
c.1461C>A
1 paper
NM_017957.3
p.S487R
c.1461C>G
1 paper
NM_017957.3
p.S487R
c.1459A>C
1 paper
NM_017957.3
p.D475G
c.1424A>G
1 paper
NM_017957.3
p.E543D
c.1629G>C
1 paper
NM_017957.3
p.E543D
c.1629G>T
1 paper
NM_017957.3
p.P461S
c.1381C>T
4 papers
NM_017957.3
p.M552T
c.1655T>C
1 paper
NM_017957.3
p.M573K
c.1718T>A
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