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

1–12 of 1094 variants

33 papers

NM_002894.3

p.Y283N

c.847T>A

33 papers

NM_002894.3

p.S327A

c.979T>G

32 papers

NM_002894.3

p.T847A

c.2539A>G

11 papers

NM_002894.3

p.R100W

c.298C>T

11 papers

NM_002894.3

p.T859A

c.2575A>G

8 papers

NM_002894.3

p.S326A

c.976T>G

8 papers

NM_002894.3

p.H358fs

c.1072_1073fs

7 papers

NM_002894.3

p.T315A

c.943A>G

7 papers

NM_002894.3

p.R589H

c.1766G>A

6 papers

NM_002894.3

p.G354_K355insFs

c.1062_1063insA

6 papers

NM_002894.3

p.K355delFs

c.1063delA

5 papers

NM_002894.3

p.K357fs

c.1069_1070fs