Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.E1203fs

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.E1203fs
c.3607_3608fs
Surrounding Variants
1 paper
NM_015100.4
p.E1203*
c.3607G>T
1 paper
NM_015100.4
p.D1202_E1203insFs
c.3606_3607ins8
6 papers
NM_015100.4
p.S1200_E1203insFs
c.3600_3607dup8
1 paper
NM_015100.4
p.E1203fs
c.3607_3608fs
1 paper
NM_207171.2
p.M1152_E1153delFs
c.3456_3457delCC
4 papers
NM_015100.4
p.S1197_G1198delFs
c.3591_3592delCA
1 paper
NM_015100.4
p.L1207delFs
c.3621delC
1 paper
NM_015100.4
p.W1208fs
c.3622_3623fs
4 papers
NM_015100.4
p.S1197fs
c.3589_3590fs
1 paper
NM_015100.4
p.E1196*
c.3586G>T
1 paper
NM_015100.4
p.E1196K
c.3586G>A
4 papers
NM_015100.4
p.T1210A
c.3628A>G
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