Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.L927insFs

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
1 paper
NM_015100.4
p.L927insFs
c.2781dupA
Surrounding Variants
4 papers
NM_015100.4
p.L927insFs
c.2780dupT
1 paper
NM_015100.4
p.L927fs
c.2779_2780fs
1 paper
NM_015100.4
p.A928fs
c.2782_2783fs
5 papers
NM_015100.4
p.L927fs
c.2779_2780fs
1 paper
NM_145796.4
p.L834delFs
c.2501delA
1 paper
NM_015100.4
p.P930L
c.2789C>T
1 paper
NM_015100.4
p.P924fs
c.2770_2771fs
1 paper
NM_015100.4
p.P924delFs
c.2771delG
1 paper
NM_015100.4
p.H923insFs
c.2768dupA
1 paper
NM_015100.4
p.H923fs
c.2767_2768fs
1 paper
NM_015100.4
p.T922fs
c.2764_2765fs
6 papers
NM_015100.4
p.T922fs
c.2764_2765fs
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