Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.I1312delFs

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
2 papers
NM_015100.4
p.I1312delFs
c.3936delA
Surrounding Variants
2 papers
NM_015100.4
p.I1312fs
c.3934_3935fs
1 paper
NM_015100.4
p.C1315W
c.3945T>G
1 paper
NM_015100.4
p.V1308insFs
c.3922dupG
1 paper
NM_015100.4
p.Q1320E
c.3958C>G
3 papers
NM_015100.4
p.L1305R
c.3914T>G
1 paper
NM_015100.4
p.V1303_W1304delFs
c.3908_3911del4
1 paper
NM_015100.4
p.V1303fs
c.3907_3908fs
1 paper
NM_015100.4
p.V1303F
c.3907G>T
1 paper
NM_015100.4
p.Q1299insFs
c.3895dupC
1 paper
NM_015100.4
p.S1327G
c.3979A>G
1 paper
NM_015100.4
p.T1290insFs
c.3868dupA
1 paper
NM_015100.4
p.A1288V
c.3863C>T
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