Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.S910*

POGZ

250 papers

RefSeq Summary

The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast ...

Pfam Domains

zf-POGZaa 749–791UCSCPOGZ-like double zinc finger
zf-C2H2_Z280C_Daa 811–847UCSCZ280C/D-like C2H2 zinc finger
HTH_Tnp_Tc5aa 1024–1085UCSCTc5 transposase DNA-binding domain
DDE_1aa 1154–1302UCSCDDE superfamily endonuclease

Gene Aliases

HGNC Name

pogo transposable element derived with ZNF domain

HGNC Alias Symbols

KIAA0461; ZNF635; ZNF280E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_015100.4
p.S910*
c.2729C>G
Surrounding Variants
4 papers
NM_015100.4
p.S910*
c.2729C>A
1 paper
NM_207171.2
p.P858delFs
c.2574delT
4 papers
NM_015100.4
p.P906S
c.2716C>T
1 paper
NM_015100.4
p.A905fs
c.2713_2714fs
1 paper
NM_015100.4
p.L904insFs
c.2712dupA
1 paper
NM_015100.4
p.T916fs
c.2746_2747fs
1 paper
NM_015100.4
p.L904fs
c.2710_2711fs
10 papers
NM_015100.4
p.L904*
c.2711T>G
9 papers
NM_015100.4
p.L904*
c.2711T>A
1 paper
NM_015100.4
p.L901_L904delFs
c.2703_2710del8
1 paper
NM_015100.4
p.T916delFs
c.2746delT
3 papers
NM_015100.4
p.P903delFs
c.2709delG
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