Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.D946fs

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.D946fs
c.2836_2837fs
Surrounding Variants
6 papers
NM_015100.4
p.D946delFs
c.2836delC
1 paper
NM_015100.4
p.D946fs
c.2836_2837fs
3 papers
NM_015100.4
p.Q945*
c.2833C>T
1 paper
NM_015100.4
p.C939_D944delFs
c.2817_2830del14
1 paper
NM_015100.4
p.L940_V942delFs
c.2819_2826del8
4 papers
NM_015100.4
p.N941fs
c.2821_2822fs
4 papers
NM_015100.4
p.P950insFs
c.2849dupC
4 papers
NM_015100.4
p.N941fs
c.2821_2822fs
3 papers
NM_015100.4
p.V951fs
c.2851_2852fs
5 papers
NM_015100.4
p.L940_N941insFs
c.2820_2821insG
1 paper
NM_015100.4
p.C939fs
c.2815_2816fs
1 paper
NM_015100.4
p.Q953*
c.2857C>T
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