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.E179K

c.535G>A

Surrounding Variants

1 paper

NM_021163.4

p.S199R

c.595A>C

1 paper

NM_021163.4

p.S199R

c.597T>A

1 paper

NM_021163.4

p.S199R

c.597T>G

1 paper

NM_021163.4

p.G155R

c.463G>A

1 paper

NM_021163.4

p.G155R

c.463G>C

1 paper

NM_021163.4

p.E209V

c.626A>T

1 paper

NM_021163.4

p.S148L

c.443C>T

1 paper

NM_021163.4

p.K142R

c.425A>G

1 paper

NM_021163.4

p.N292H

c.874A>C

1 paper

NM_021163.4

p.E80Splc

c.239-77G>T

1 paper

NM_021163.4

p.K315_P316insFs

c.945_946insC

1 paper

NM_021163.4

p.K318insFs

c.952_953insA