Varaico: Literature-Extracted Genetic Variants

Gene:ZBED6
Variant:p.E728D

ZBED6

49 papers

RefSeq Summary

The protein encoded by this transposon-derived intronless gene is a transcriptional repressor that binds to the consensus sequence 5'-GCTCGC-3'. The encoded protein has been shown to repress IGF2 tran...

Pfam Domains

zf-BEDaa 133–181UCSCBED zinc finger
zf-BEDaa 267–315UCSCBED zinc finger
ZBED1_RNase-like_helicalaa 581–691UCSCZBED1 RNase-like helical domain
Dimer_Tnp_hATaa 867–948UCSChAT family C-terminal dimerisation region

Gene Aliases

HGNC Name

zinc finger BED-type containing 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001395895.1
p.E728D
c.2184A>T
Surrounding Variants
1 paper
NM_001395895.1
p.E728D
c.2184A>C
1 paper
NM_001395895.1
p.L709L
c.2125T>C
1 paper
NM_001395895.1
p.I765L
c.2293A>C
1 paper
NM_001395895.1
p.N776N
c.2328C>T
1 paper
NM_001395895.1
p.A817V
c.2450C>T
1 paper
NM_001395895.1
p.S831A
c.2491T>G
1 paper
NM_001395895.1
p.S831L
c.2492C>T
1 paper
NM_001395895.1
p.A847V
c.2540C>T
1 paper
NM_001395895.1
p.V864A
c.2591T>C
1 paper
NM_001395895.1
p.E877G
c.2630A>G
1 paper
NM_001395895.1
p.I894K
c.2681T>A
5 papers
NM_001395895.1
p.F560L
c.1680C>A
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