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.R385fs

c.1153_1154fs

Surrounding Variants

3 papers

NM_015100.4

p.R385fs

c.1153_1154fs

6 papers

NM_015100.4

p.F384insFs

c.1152dupT

1 paper

NM_015100.4

p.F384_R385insFs

c.1152_1153insA

1 paper

NM_015100.4

p.L390W

c.1169T>G

1 paper

NM_015100.4

p.R379Q

c.1136G>A

1 paper

NM_015100.4

p.R379*

c.1135C>T

1 paper

NM_015100.4

p.H393fs

c.1177_1178fs

8 papers

NM_015100.4

p.M394fs

c.1180_1181fs

1 paper

NM_015100.4

p.M394insFs

c.1181_1182insAT

2 papers

NM_015100.4

p.H393_M394Fs

c.1178_1181delinsCCFs

2 papers

NM_015100.4

p.M394fs

c.1180_1181fs

13 papers

NM_015100.4

p.M394delFs

c.1180_1181delAT