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

6 papers

NM_002894.3

p.K355delFs

c.1063delA

Surrounding Variants

6 papers

NM_002894.3

p.G354_K355insFs

c.1062_1063insA

4 papers

NM_002894.3

p.K355fs

c.1063_1064fs

1 paper

NM_002894.3

p.K355E

c.1063A>G

2 papers

NM_002894.3

p.K355*

c.1063A>T

1 paper

NM_002894.3

p.K355R

c.1064A>G

1 paper

NM_002894.3

p.G354R

c.1060G>A

1 paper

NM_002894.3

p.P353L

c.1058C>T

1 paper

NM_002894.3

p.K357fs

c.1069_1070fs

1 paper

NM_002894.3

p.Q352P

c.1055A>C

1 paper

NM_002894.3

p.Q352R

c.1055A>G

5 papers

NM_002894.3

p.K357fs

c.1069_1070fs

1 paper

NM_002894.3

p.K357R

c.1070A>G