Varaico: Literature-Extracted Genetic Variants

Gene:PEG3
Variant:p.N814K

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.N814K
c.2442C>G
Surrounding Variants
1 paper
NM_006210.3
p.N814K
c.2442C>A
2 papers
NM_006210.3
p.Q788H
c.2364G>T
2 papers
NM_006210.3
p.Q788H
c.2364G>C
1 paper
NM_006210.3
p.A787S
c.2359G>T
1 paper
NM_006210.3
p.A771E
c.2312C>A
1 paper
NM_006210.3
p.S862S
c.2586C>T
1 paper
NM_006210.3
p.N869K
c.2607T>G
1 paper
NM_006210.3
p.N869K
c.2607T>A
1 paper
NM_006210.3
p.R872*
c.2614C>T
1 paper
NM_006210.3
p.R872L
c.2615G>T
2 papers
NM_006210.3
p.K874N
c.2622G>T
1 paper
NM_006210.3
p.K874N
c.2622G>C
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