Varaico: Literature-Extracted Genetic Variants

RBAK

31 papers

RefSeq Summary

This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are a...

Pfam Domains

KRABaa 7–48UCSCKRAB box

zf-C2H2aa 261–283UCSCZinc finger, C2H2 type

zf-C2H2aa 289–311UCSCZinc finger, C2H2 type

zf-C2H2aa 317–339UCSCZinc finger, C2H2 type

zf-C2H2aa 345–367UCSCZinc finger, C2H2 type

zf-C2H2aa 373–395UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

RB associated KRAB zinc finger

HGNC Alias Symbol

ZNF769

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021163.4

p.F326insFs

c.977_978insC

Surrounding Variants

1 paper

NM_021163.4

p.E321A

c.962A>C

1 paper

NM_021163.4

p.K318insFs

c.952_953insA

1 paper

NM_021163.4

p.K315_P316insFs

c.945_946insC

1 paper

NM_021163.4

p.T338insFs

c.1012_1013insT

1 paper

NM_021163.4

p.H339_S340delFs

c.1017_1018delTT

1 paper

NM_021163.4

p.G341insFs

c.1022_1023insT

1 paper

NM_021163.4

p.N292H

c.874A>C

1 paper

NM_021163.4

p.R384H

c.1151G>A

1 paper

NM_021163.4

p.H391N

c.1171C>A

1 paper

NM_021163.4

p.H391P

c.1172A>C

1 paper

NM_021163.4

p.T424T

c.1272G>A

1 paper

NM_021163.4

p.P428A

c.1282C>G