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.G87C

c.259G>T

Surrounding Variants

1 paper

NM_002894.3

p.G87S

c.259G>A

1 paper

NM_002894.3

p.A86T

c.256G>A

1 paper

NM_002894.3

p.A86P

c.256G>C

1 paper

NM_002894.3

p.L88S

c.263T>C

1 paper

NM_002894.3

p.R85G

c.253A>G

1 paper

NM_002894.3

p.C89S

c.265T>A

1 paper

NM_002894.3

p.R85_C89del5

c.253_266del15

1 paper

NM_002894.3

p.L84*

c.251T>A

1 paper

NM_002894.3

p.C89*

c.267T>A

1 paper

NM_002894.3

p.L84S

c.251T>C

1 paper

NM_002894.3

p.D90H

c.268G>C

1 paper

NM_002894.3

p.L84I

c.250T>A