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.E616Q

c.1846G>C

Surrounding Variants

1 paper

NM_006210.3

p.G622D

c.1865G>A

1 paper

NM_006210.3

p.K625N

c.1875A>T

1 paper

NM_006210.3

p.K625N

c.1875A>C

1 paper

NM_006210.3

p.M626I

c.1878G>T

1 paper

NM_006210.3

p.M626I

c.1878G>C

1 paper

NM_006210.3

p.M626I

c.1878G>A

1 paper

NM_006210.3

p.G605R

c.1813G>C

1 paper

NM_006210.3

p.G605R

c.1813G>A

2 papers

NM_006210.3

p.R604H

c.1811G>A

1 paper

NM_006210.3

p.R604C

c.1810C>T

1 paper

NM_006210.3

p.E601_E603del3

c.1801_1808del9

2 papers

NM_006210.3

p.E603ins2

c.1808_1809ins6