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.R167W

c.499C>T

Surrounding Variants

1 paper

NM_006210.3

p.S161insFs

c.482_483insC

1 paper

NM_006210.3

p.R177Q

c.530G>A

2 papers

NM_006210.3

p.T183N

c.548C>A

1 paper

NM_006210.3

p.S159insFs

c.475_476insC

1 paper

NM_006210.3

p.S151F

c.452C>T

1 paper

NM_006210.3

p.M144_T145delFs

c.431_434del4

1 paper

NM_006210.3

p.D143insFs

c.429dupC

1 paper

NM_006210.3

p.D143H

c.427G>C

1 paper

NM_006210.3

p.D141N

c.421G>A

1 paper

NM_006210.3

p.T139T

c.417C>T

1 paper

NM_006210.3

p.T139A

c.415A>G

1 paper

NM_006210.3

p.D132D

c.396C>T