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.K658N

c.1974G>C

Surrounding Variants

1 paper

NM_006210.3

p.K658N

c.1974G>T

1 paper

NM_006210.3

p.R675C

c.2023C>T

1 paper

NM_006210.3

p.R675_Q676insA

c.2023_2027ins3

1 paper

NM_006210.3

p.R675H

c.2024G>A

1 paper

NM_006210.3

p.N680S

c.2039A>G

1 paper

NM_006210.3

p.F636L

c.1908C>G

1 paper

NM_006210.3

p.F636L

c.1908C>A

1 paper

NM_006210.3

p.F636L

c.1906T>C

1 paper

NM_006210.3

p.K683_L684insA

c.2047_2051ins3

1 paper

NM_006210.3

p.K630T

c.1889A>C

1 paper

NM_006210.3

p.C629Y

c.1886G>A

1 paper

NM_006210.3

p.M626I

c.1878G>T