Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.V1169V

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.V1169V
c.3507C>G
Surrounding Variants
1 paper
NM_015100.4
p.V1169_T1172del0
c.3507_3515del9
1 paper
NM_015100.4
p.V1160del1
c.3478_3479delGAC
1 paper
NM_015100.4
p.V1160V
c.3480C>G
1 paper
NM_015100.4
p.V1159_V1160del1
c.3477_3479delACT
1 paper
NM_015100.4
p.D1181_Q1182insAT
c.3541_3545ins6
7 papers
NM_015100.4
p.M1180_D1181del2
c.3538_3542del6
1 paper
NM_015100.4
p.P1155T
c.3463C>A
1 paper
NM_015100.4
p.E1154fs
c.3460_3461fs
6 papers
NM_015100.4
p.E1154fs
c.3460_3461fs
8 papers
NM_015100.4
p.T1152_G1153delFs
c.3456_3457delCT
1 paper
NM_015100.4
p.T1152delFs
c.3455_3456delTG
1 paper
NM_015100.4
p.T1152_G1153insA
c.3454_3458ins3
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