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

1 paper

NM_006210.3

p.K320M

c.959A>T

Surrounding Variants

1 paper

NM_006210.3

p.F318L

c.954C>G

1 paper

NM_006210.3

p.F318L

c.954C>A

1 paper

NM_006210.3

p.F318L

c.952T>C

1 paper

NM_006210.3

p.M315V

c.943A>G

1 paper

NM_006210.3

p.G312R

c.934G>A

1 paper

NM_006210.3

p.R332W

c.994A>T

1 paper

NM_006210.3

p.R337W

c.1009C>T

1 paper

NM_006210.3

p.S338L

c.1013C>T

1 paper

NM_006210.3

p.R302W

c.904C>T

1 paper

NM_006210.3

p.Q339_F341delFs

c.1017_1021del5

1 paper

NM_006210.3

p.S298fs

c.892_893fs

1 paper

NM_006210.3

p.K297insFs

c.891dupA