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.H529P

c.1586A>C

Surrounding Variants

1 paper

NM_021163.4

p.Q530Q

c.1590G>A

1 paper

NM_021163.4

p.N542D

c.1624A>G

1 paper

NM_021163.4

p.C516Y

c.1547G>A

1 paper

NM_021163.4

p.E512K

c.1534G>A

1 paper

NM_021163.4

p.L551F

c.1653G>C

1 paper

NM_021163.4

p.L551F

c.1653G>T

2 papers

NM_021163.4

p.H505P

c.1514A>C

1 paper

NM_021163.4

p.D500N

c.1498G>A

1 paper

NM_021163.4

p.L452*

c.1355T>A

1 paper

NM_021163.4

p.L452*

c.1355T>G

1 paper

NM_021163.4

p.E433_C434delFs

c.1299_1300delGT

1 paper

NM_021163.4

p.E433fs

c.1297_1298fs