Varaico: Literature-Extracted Genetic Variants

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

12 papers

NM_015100.4

p.R1001*

c.3001C>T

NM_145796.4

p.R906*

c.2716C>T

Surrounding Variants

1 paper

NM_207171.2

p.P946delFs

c.2836delG

2 papers

NM_015100.4

p.P999S

c.2995C>T

4 papers

NM_015100.4

p.R997Q

c.2990G>A

8 papers

NM_015100.4

p.R997*

c.2989C>T

1 paper

NM_015100.4

p.R1005H

c.3014G>A

15 papers

NM_015100.4

p.R1008*

c.3022C>T

2 papers

NM_015100.4

p.R1008_R1009delFs

c.3024_3025delGT

1 paper

NM_015100.4

p.Q991Q

c.2973G>A

5 papers

NM_015100.4

p.Q1011*

c.3031C>T

4 papers

NM_015100.4

p.Q1014fs

c.3040_3041fs

8 papers

NM_015100.4

p.Q1014*

c.3040C>T

1 paper

NM_015100.4

p.Q1014fs

c.3040_3041fs