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.Q582_K583Fs

c.1746_1747delinsCFs

Surrounding Variants

2 papers

NM_001146185.2

p.K457I

c.1370A>T

NM_006210.3

p.K583I

c.1748A>T

1 paper

NM_001146187.2

p.H457L

c.1370A>T

1 paper

NM_006210.3

p.H585Y

c.1753C>T

1 paper

NM_006210.3

p.D591N

c.1771G>A

1 paper

NM_006210.3

p.R594C

c.1780C>T

1 paper

NM_006210.3

p.T571T

c.1713C>G

1 paper

NM_006210.3

p.E595*

c.1783G>T

1 paper

NM_006210.3

p.H596R

c.1787A>G

1 paper

NM_006210.3

p.R598C

c.1792C>T

1 paper

NM_006210.3

p.V567V

c.1701G>T

1 paper

NM_006210.3

p.R598H

c.1793G>A

1 paper

NM_006210.3

p.H596_R598del0

c.1787_1792del6