Varaico: Literature-Extracted Genetic Variants

Gene:PEG3
Variant:p.C1168S

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.C1168S
c.3503G>C
Surrounding Variants
1 paper
NM_006210.3
p.C1168S
c.3502T>A
1 paper
NM_006210.3
p.S1171_F1172insA
c.3511_3515ins3
1 paper
NM_006210.3
p.H1174Y
c.3520C>T
1 paper
NM_006210.3
p.Q1161K
c.3481C>A
1 paper
NM_006210.3
p.S1176L
c.3527C>T
1 paper
NM_006210.3
p.Y1157*
c.3471C>G
1 paper
NM_006210.3
p.Y1157*
c.3471C>A
1 paper
NM_006210.3
p.Q1182H
c.3546G>T
1 paper
NM_006210.3
p.Q1182H
c.3546G>C
1 paper
NM_006210.3
p.A1213D
c.3638C>A
1 paper
NM_006210.3
p.V1117M
c.3349G>A
1 paper
NM_006210.3
p.G1115S
c.3343G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."