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.H1091Y

c.3271C>T

Surrounding Variants

1 paper

NM_015100.4

p.A1090_H1091delFs

c.3270_3271delGG

1 paper

NM_015100.4

p.R1087Q

c.3260G>A

6 papers

NM_015100.4

p.R1087*

c.3259C>T

1 paper

NM_015100.4

p.P1094_K1095delFs

c.3282_3283delTA

1 paper

NM_015100.4

p.H1084R

c.3251A>G

1 paper

NM_015100.4

p.H1080R

c.3239A>G

2 papers

NM_001194937.2

p.L1094F

c.3280C>T

NM_145796.4

p.L1008F

c.3022C>T

2 papers

NM_015100.4

p.L1103fs

c.3307_3308fs

1 paper

NM_015100.4

p.L1103H

c.3308T>A

2 papers

NM_015100.4

p.L1103delFs

c.3308delA

4 papers

NM_015100.4

p.F1104fs

c.3310_3311fs

2 papers

NM_015100.4

p.L1103_F1104delFs

c.3309_3310delAG