Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.R979*

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
7 papers
NM_015100.4
p.R979*
c.2935C>T
Surrounding Variants
2 papers
NM_015100.4
p.L978insFs
c.2933_2934dupTT
2 papers
NM_015100.4
p.R979fs
c.2935_2936fs
1 paper
NM_015100.4
p.R979fs
c.2935_2936fs
4 papers
NM_015100.4
p.V975delFs
c.2924_2925delCA
1 paper
NM_015100.4
p.V975fs
c.2923_2924fs
1 paper
NM_145796.4
p.S879_V880delFs
c.2635_2638del4
2 papers
NM_015100.4
p.V975fs
c.2923_2924fs
1 paper
NM_015100.4
p.Q972P
c.2915A>C
2 papers
NM_015100.4
p.Q972*
c.2914C>T
1 paper
NM_015100.4
p.Q991Q
c.2973G>A
1 paper
NM_015100.4
p.S964G
c.2890A>G
1 paper
NM_015100.4
p.G962fs
c.2884_2885fs
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