Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.Q1042R

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
10 papers
NM_015100.4
p.Q1042R
c.3125A>G
Surrounding Variants
1 paper
NM_145796.4
p.Q946delFs
c.2836delG
11 papers
NM_015100.4
p.E1040K
c.3118G>A
1 paper
NM_015100.4
p.R1039H
c.3116G>A
8 papers
NM_015100.4
p.Q1038R
c.3113A>G
6 papers
NM_015100.4
p.E1047*
c.3139G>T
1 paper
NM_015100.4
p.L1050F
c.3150G>T
1 paper
NM_015100.4
p.L1050F
c.3150G>C
1 paper
NM_015100.4
p.F1051L
c.3151T>C
1 paper
NM_015100.4
p.E1033E
c.3099G>A
1 paper
NM_015100.4
p.L1050_F1051delFs
c.3150_3151delAC
1 paper
NM_015100.4
p.E1033K
c.3097G>A
1 paper
NM_015100.4
p.F1051L
c.3153C>G
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