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.R50G

c.148C>G

Surrounding Variants

4 papers

NM_006210.3

p.R50Q

c.149G>A

1 paper

NM_006210.3

p.E56*

c.166G>T

1 paper

NM_006210.3

p.E56K

c.166G>A

1 paper

NM_006210.3

p.F57S

c.170T>C

1 paper

NM_006210.3

p.V33G

c.98T>G

1 paper

NM_006210.3

p.R68Q

c.203G>A

1 paper

NM_006210.3

p.W74R

c.220T>A

1 paper

NM_006210.3

p.Q76R

c.227A>G

1 paper

NM_006210.3

p.P77L

c.230C>T

1 paper

NM_006210.3

p.T81S

c.242C>G

1 paper

NM_006210.3

p.R80_K82delFs

c.239_245del7

1 paper

NM_006210.3

p.W16*

c.48G>A