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

1 paper

NM_015100.4

p.P684S

c.2050C>T

Surrounding Variants

1 paper

NM_015100.4

p.R674fs

c.2020_2021fs

9 papers

NM_015100.4

p.R674delFs

c.2020delG

5 papers

NM_015100.4

p.R674fs

c.2020_2021fs

1 paper

NM_015100.4

p.R674C

c.2020C>T

1 paper

NM_015100.4

p.D661N

c.1981G>A

1 paper

NM_015100.4

p.K660fs

c.1978_1979fs

2 papers

NM_015100.4

p.L657F

c.1969C>T

1 paper

NM_015100.4

p.C652R

c.1954T>C

1 paper

NM_015100.4

p.Y647*

c.1941T>G

1 paper

NM_015100.4

p.Y647*

c.1941T>A

1 paper

NM_001194937.2

p.Y638H

c.1912T>C

1 paper

NM_015100.4

p.K643N

c.1929G>C