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

11 papers

NM_002894.3

p.T859A

c.2575A>G

Surrounding Variants

1 paper

NM_002894.3

p.T859N

c.2576C>A

1 paper

NM_002894.3

p.S858P

c.2572T>C

1 paper

NM_002894.3

p.M863V

c.2587A>G

1 paper

NM_002894.3

p.M863K

c.2588T>A

1 paper

NM_002894.3

p.E864K

c.2590G>A

1 paper

NM_002894.3

p.E853G

c.2558A>G

1 paper

NM_002894.3

p.W852*

c.2556G>A

1 paper

NM_002894.3

p.R865I

c.2594G>T

1 paper

NM_002894.3

p.W852*

c.2555G>A

1 paper

NM_002894.3

p.N850K

c.2550T>A

1 paper

NM_002894.3

p.N850K

c.2550T>G

1 paper

NM_002894.3

p.E849G

c.2546A>G