Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.E1362D

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
3 papers
NM_015100.4
p.E1362D
c.4086A>C
Surrounding Variants
3 papers
NM_015100.4
p.E1362D
c.4086A>T
1 paper
NM_015100.4
p.H1363R
c.4088A>G
1 paper
NM_015100.4
p.E1365D
c.4095G>T
1 paper
NM_015100.4
p.E1365D
c.4095G>C
1 paper
NM_015100.4
p.Q1356K
c.4066C>A
1 paper
NM_015100.4
p.R1370*
c.4108C>T
1 paper
NM_015100.4
p.S1352insFs
c.4054dupT
2 papers
NM_015100.4
p.E1348Q
c.4042G>C
1 paper
NM_015100.4
p.A1343insFs
c.4027dupG
1 paper
NM_015100.4
p.H1385N
c.4153C>A
1 paper
NM_015100.4
p.E1393*
c.4177G>T
1 paper
NM_015100.4
p.S1327G
c.3979A>G
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