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

Selected Variant

2 papers

NM_006210.3

p.E484K

c.1450G>A

Surrounding Variants

1 paper

NM_006210.3

p.Y482_G483insC

c.1444_1448ins3

1 paper

NM_006210.3

p.E477_S485del9

c.1429_1454del27

1 paper

NM_006210.3

p.S489I

c.1466G>T

1 paper

NM_006210.3

p.T475_R476insC

c.1423_1427ins3

1 paper

NM_006210.3

p.A519T

c.1555G>A

2 papers

NM_006210.3

p.R524Q

c.1571G>A

1 paper

NM_006210.3

p.A528V

c.1583C>T

1 paper

NM_006210.3

p.S436F

c.1307C>T

1 paper

NM_006210.3

p.L431_L434del4

c.1291_1301del12

1 paper

NM_006210.3

p.C540Y

c.1619G>A

1 paper

NM_006210.3

p.E541V

c.1622A>T

1 paper

NM_006210.3

p.E542K

c.1624G>A