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.L491L

c.1473G>C

Surrounding Variants

1 paper

NM_002894.3

p.L493delFs

c.1477delC

1 paper

NM_002894.3

p.L493insFs

c.1478_1479insT

1 paper

NM_002894.3

p.L493P

c.1478T>C

1 paper

NM_002894.3

p.S494_R496del3

c.1480_1487del9

1 paper

NM_002894.3

p.S494_R496delFs

c.1481_1488del8

1 paper

NM_002894.3

p.D488G

c.1463A>G

1 paper

NM_002894.3

p.D488V

c.1463A>T

1 paper

NM_002894.3

p.D495G

c.1484A>G

2 papers

NM_002894.3

p.D488N

c.1462G>A

1 paper

NM_002894.3

p.D495E

c.1485T>A

1 paper

NM_002894.3

p.D495E

c.1485T>G

2 papers

NM_002894.3

p.R496*

c.1486C>T