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

2 papers

NM_006210.3

p.I97V

c.289A>G

Surrounding Variants

1 paper

NM_006210.3

p.W105*

c.314G>A

1 paper

NM_006210.3

p.W105*

c.315G>A

1 paper

NM_006210.3

p.R107*

c.319C>T

1 paper

NM_006210.3

p.E83_E84delFs

c.247_250del4

1 paper

NM_006210.3

p.R80_K82delFs

c.239_245del7

1 paper

NM_006210.3

p.E112D

c.336G>T

1 paper

NM_006210.3

p.E112D

c.336G>C

1 paper

NM_006210.3

p.T81S

c.242C>G

1 paper

NM_006210.3

p.P77L

c.230C>T

1 paper

NM_006210.3

p.Q76R

c.227A>G

2 papers

NM_006210.3

p.V118I

c.352G>A

1 paper

NM_006210.3

p.W74R

c.220T>A