Varaico: Literature-Extracted Genetic Variants

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

1–12 of 234 variants

4 papers

NM_006210.3

p.R50Q

c.149G>A

2 papers

NM_006210.3

p.I97V

c.289A>G

2 papers

NM_006210.3

p.V118I

c.352G>A

2 papers

NM_006210.3

p.R167W

c.499C>T

2 papers

NM_006210.3

p.T183N

c.548C>A

2 papers

NM_006210.3

p.R193W

c.577C>T

2 papers

NM_006210.3

p.E484K

c.1450G>A

2 papers

NM_006210.3

p.R524Q

c.1571G>A

2 papers

NM_006210.3

p.E603ins2

c.1808_1809ins6

2 papers

NM_006210.3

p.R604H

c.1811G>A

2 papers

NM_006210.3

p.Q788H

c.2364G>T

2 papers

NM_006210.3

p.Q788H

c.2364G>C