Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.R1211_Q1214del0

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.R1211_Q1214del0
c.3633_3641del9
Surrounding Variants
1 paper
NM_015100.4
p.T1217fs
c.3649_3650fs
1 paper
NM_015100.4
p.T1217delFs
c.3650_3651delTG
5 papers
NM_015100.4
p.R1211*
c.3631C>T
4 papers
NM_015100.4
p.T1210A
c.3628A>G
3 papers
NM_015100.4
p.T1210P
c.3628A>C
1 paper
NM_015100.4
p.Q1220R
c.3659A>G
1 paper
NM_015100.4
p.W1208fs
c.3622_3623fs
1 paper
NM_015100.4
p.Q1220insFs
c.3659dupA
1 paper
NM_015100.4
p.L1207delFs
c.3621delC
1 paper
NM_015100.4
p.S1222R
c.3664A>C
1 paper
NM_015100.4
p.S1222R
c.3666C>G
1 paper
NM_015100.4
p.S1222R
c.3666C>A
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