Varaico: Literature-Extracted Genetic Variants

RBBP8

457 papers

RefSeq Summary

The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This ...

Pfam Domains

CtIP_Naa 20–139UCSCTumour-suppressor protein CtIP N-terminal domain

SAE2aa 822–861UCSCDNA endonuclease activator SAE2/CtIP C-terminus

Gene Aliases

HGNC Name

RB binding protein 8, endonuclease

HGNC Previous Symbol

SCKL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002894.3

p.K291*

c.871A>T

Surrounding Variants

1 paper

NM_002894.3

p.K291Q

c.871A>C

1 paper

NM_002894.3

p.K291R

c.872A>G

1 paper

NM_002894.3

p.K292*

c.874A>T

1 paper

NM_002894.3

p.H290N

c.868C>A

1 paper

NM_002894.3

p.K292R

c.875A>G

1 paper

NM_002894.3

p.N289K

c.867T>A

1 paper

NM_002894.3

p.N289K

c.867T>G

1 paper

NM_002894.3

p.N289T

c.866A>C

1 paper

NM_002894.3

p.Q293L

c.878A>T

1 paper

NM_002894.3

p.G288E

c.863G>A

1 paper

NM_002894.3

p.G288V

c.863G>T

1 paper

NM_002894.3

p.P294S

c.880C>T