Varaico: Literature-Extracted Genetic Variants

Gene:EPOP
Variant:p.K278*

EPOP

31 papers

Pfam Domains

EPOPaa 297–373UCSCElongin BC and Polycomb repressive complex 2-associated protein

Gene Aliases

HGNC Name

elongin BC and polycomb repressive complex 2 associated protein

HGNC Previous Symbol

C17orf96

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130677.2
p.K278*
c.832A>T
Surrounding Variants
1 paper
NM_001130677.2
p.A262A
c.786C>T
2 papers
NM_001130677.2
p.R247P
c.740G>C
1 paper
NM_001130677.2
p.G238E
c.713G>A
1 paper
NM_001130677.2
p.F319F
c.957C>T
1 paper
NM_001130677.2
p.P320L
c.959C>T
1 paper
NM_001130677.2
p.P322S
c.964C>T
1 paper
NM_001130677.2
p.P220L
c.659C>T
1 paper
NM_001130677.2
p.N214T
c.641A>C
2 papers
NM_001130677.2
p.A350P
c.1048G>C
1 paper
NM_001130677.2
p.A350V
c.1049C>T
1 paper
NM_001130677.2
p.A362S
c.1084G>T
1 paper
NM_001130677.2
p.A172V
c.515C>T
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