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

2 papers

NM_021163.4

p.N682N

c.2046C>T

Surrounding Variants

1 paper

NM_021163.4

p.N682K

c.2046C>A

1 paper

NM_021163.4

p.N682K

c.2046C>G

1 paper

NM_021163.4

p.E680E

c.2040A>G

1 paper

NM_021163.4

p.K687delFs

c.2061delA

1 paper

NM_021163.4

p.V708I

c.2122G>A

1 paper

NM_021163.4

p.N654S

c.1961A>G

1 paper

NM_021163.4

p.N637Y

c.1909A>T

1 paper

NM_021163.4

p.R634Q

c.1901G>A

1 paper

NM_021163.4

p.L551F

c.1653G>C

1 paper

NM_021163.4

p.L551F

c.1653G>T

1 paper

NM_021163.4

p.N542D

c.1624A>G

1 paper

NM_021163.4

p.Q530Q

c.1590G>A