Varaico: Literature-Extracted Genetic Variants

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.K121Q

c.361A>C

Surrounding Variants

2 papers

NM_001395895.1

p.N118S

c.353A>G

3 papers

NM_001395895.1

p.N105S

c.314A>G

1 paper

NM_001395895.1

p.P182A

c.544C>G

1 paper

NM_001395895.1

p.K54E

c.160A>G

1 paper

NM_001395895.1

p.P15T

c.43C>A

4 papers

NM_001395895.1

p.D276N

c.826G>A

1 paper

NM_001395895.1

p.P277L

c.830C>T

1 paper

NM_001395895.1

p.I287_C288delFs

c.861_862delAT

1 paper

NM_001395895.1

p.I287fs

c.859_860fs

1 paper

NM_001395895.1

p.R294W

c.880C>T

1 paper

NM_001395895.1

p.G298E

c.893G>A

1 paper

NM_001395895.1

p.H300Y

c.898C>T