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.R1232C

c.3694C>T

Surrounding Variants

1 paper

NM_015100.4

p.C1230delFs

c.3689delC

1 paper

NM_015100.4

p.C1230fs

c.3688_3689fs

2 papers

NM_207171.2

p.H1181Y

c.3541C>T

NM_015100.4

p.H1234Y

c.3700C>T

1 paper

NM_015100.4

p.E1238*

c.3712G>T

1 paper

NM_015100.4

p.Q1220_K1223del0

c.3660_3668del9

1 paper

NM_015100.4

p.S1222R

c.3666C>G

1 paper

NM_015100.4

p.S1222R

c.3666C>A

1 paper

NM_015100.4

p.S1222R

c.3664A>C

1 paper

NM_015100.4

p.Q1220insFs

c.3659dupA

1 paper

NM_015100.4

p.Q1220R

c.3659A>G

1 paper

NM_015100.4

p.T1217delFs

c.3650_3651delTG

1 paper

NM_015100.4

p.T1217fs

c.3649_3650fs