Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.L1117fs

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.L1117fs
c.3349_3350fs
Surrounding Variants
1 paper
NM_015100.4
p.L1117delFs
c.3350delA
6 papers
NM_015100.4
p.P1118delFs
c.3354delG
4 papers
NM_015100.4
p.L1119fs
c.3355_3356fs
1 paper
NM_145796.4
p.Q1014*
c.3040C>T
1 paper
NM_015100.4
p.F1107_V1108insFs
c.3321_3322ins8
1 paper
NM_015100.4
p.V1108Fs
c.3322delinsTGATGACGAFs
1 paper
NM_015100.4
p.F1107fs
c.3319_3320fs
4 papers
NM_015100.4
p.F1104delFs
c.3312delG
1 paper
NM_015100.4
p.F1104fs
c.3310_3311fs
2 papers
NM_015100.4
p.L1103_F1104delFs
c.3309_3310delAG
4 papers
NM_015100.4
p.F1104fs
c.3310_3311fs
2 papers
NM_015100.4
p.L1103delFs
c.3308delA
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