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.Q407K

c.1219C>A

Surrounding Variants

1 paper

NM_006210.3

p.D406N

c.1216G>A

1 paper

NM_006210.3

p.K408E

c.1222A>G

1 paper

NM_006210.3

p.C410Y

c.1229G>A

1 paper

NM_006210.3

p.C410*

c.1230T>A

1 paper

NM_006210.3

p.R393S

c.1177C>A

1 paper

NM_006210.3

p.K391insFs

c.1171_1172insA

1 paper

NM_006210.3

p.R423K

c.1268G>A

1 paper

NM_006210.3

p.S379T

c.1135T>A

1 paper

NM_006210.3

p.L431_L434del4

c.1291_1301del12

1 paper

NM_006210.3

p.F377L

c.1131T>G

1 paper

NM_006210.3

p.F377L

c.1131T>A

1 paper

NM_006210.3

p.S436F

c.1307C>T