Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.R1285Q

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.R1285Q
c.3854G>A
Surrounding Variants
10 papers
NM_015100.4
p.Q1283*
c.3847C>T
1 paper
NM_015100.4
p.A1288V
c.3863C>T
1 paper
NM_015100.4
p.T1290insFs
c.3868dupA
1 paper
NM_015100.4
p.K1279delFs
c.3837delT
1 paper
NM_015100.4
p.K1279fs
c.3835_3836fs
4 papers
NM_015100.4
p.H1277_K1278insC
c.3829_3833ins3
1 paper
NM_015100.4
p.L1276P
c.3827T>C
1 paper
NM_015100.4
p.Q1299insFs
c.3895dupC
1 paper
NM_015100.4
p.V1303F
c.3907G>T
1 paper
NM_015100.4
p.L1264_C1267del0
c.3792_3800del9
1 paper
NM_015100.4
p.V1303fs
c.3907_3908fs
1 paper
NM_015100.4
p.V1303_W1304delFs
c.3908_3911del4
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