Varaico: Literature-Extracted Genetic Variants

Gene:PEG3
Variant:p.E1356del1

PEG3

158 papers

RefSeq Summary

In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events...

Pfam Domains

SCANaa 42–131UCSCSCAN domain
zf-C2H2aa 297–319UCSCZinc finger, C2H2 type
zf-C2H2aa 350–372UCSCZinc finger, C2H2 type
zf-C2H2aa 472–494UCSCZinc finger, C2H2 type
zf-C2H2aa 814–836UCSCZinc finger, C2H2 type
zf-C2H2aa 952–974UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

paternally expressed 3

HGNC Alias Symbols

ZKSCAN22; KIAA0287; ZNF904; ZSCAN24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006210.3
p.E1356del1
c.4066_4067delTTC
Surrounding Variants
1 paper
NM_006210.3
p.D1361ins1
c.4082_4083insAGA
1 paper
NM_006210.3
p.D1361N
c.4081G>A
1 paper
NM_006210.3
p.A1370T
c.4108G>A
1 paper
NM_006210.3
p.V1392I
c.4174G>A
1 paper
NM_006210.3
p.A1395S
c.4183G>T
1 paper
NM_006210.3
p.E1398D
c.4194A>T
1 paper
NM_006210.3
p.E1398D
c.4194A>C
1 paper
NM_006210.3
p.P1324H
c.3971C>A
1 paper
NM_006210.3
p.T1318N
c.3953C>A
1 paper
NM_006210.3
p.E1405D
c.4215A>T
1 paper
NM_006210.3
p.E1405D
c.4215A>C
1 paper
NM_006210.3
p.S1313F
c.3938C>T
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