Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.F1051L

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.F1051L
c.3153C>G
Surrounding Variants
1 paper
NM_015100.4
p.F1051L
c.3153C>A
1 paper
NM_015100.4
p.L1050_F1051delFs
c.3150_3151delAC
1 paper
NM_015100.4
p.F1051L
c.3151T>C
1 paper
NM_015100.4
p.L1050F
c.3150G>T
1 paper
NM_015100.4
p.L1050F
c.3150G>C
6 papers
NM_015100.4
p.E1047*
c.3139G>T
1 paper
NM_015100.4
p.R1059_S1060delFs
c.3177_3178delAA
1 paper
NM_015100.4
p.S1060fs
c.3178_3179fs
1 paper
NM_015100.4
p.S1060delFs
c.3179_3180delAG
10 papers
NM_015100.4
p.Q1042R
c.3125A>G
1 paper
NM_145796.4
p.Q946delFs
c.2836delG
1 paper
NM_015100.4
p.E1062G
c.3185A>G
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