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

33 papers

NM_002894.3

p.S327A

c.979T>G

Surrounding Variants

1 paper

NM_002894.3

p.S327T

c.979T>A

1 paper

NM_002894.3

p.S327F

c.980C>T

8 papers

NM_002894.3

p.S326A

c.976T>G

1 paper

NM_002894.3

p.V325E

c.974T>A

1 paper

NM_002894.3

p.P328P

c.984T>A

1 paper

NM_002894.3

p.V329A

c.986T>C

1 paper

NM_002894.3

p.R324G

c.970C>G

1 paper

NM_002894.3

p.F330L

c.988T>C

1 paper

NM_002894.3

p.F330C

c.989T>G

1 paper

NM_002894.3

p.T323I

c.968C>T

1 paper

NM_002894.3

p.G331*

c.991G>T

3 papers

NM_002894.3

p.G331A

c.992G>C