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.R837K

c.2510G>A

Surrounding Variants

1 paper

NM_002894.3

p.S836L

c.2507C>T

3 papers

NM_002894.3

p.R839*

c.2515C>T

4 papers

NM_002894.3

p.R839Q

c.2516G>A

1 paper

NM_002894.3

p.S834T

c.2500T>A

1 paper

NM_002894.3

p.R841H

c.2522G>A

1 paper

NM_002894.3

p.R841R

c.2523C>G

1 paper

NM_002894.3

p.K831E

c.2491A>G

1 paper

NM_002894.3

p.K830E

c.2488A>G

1 paper

NM_002894.3

p.N846D

c.2536A>G

32 papers

NM_002894.3

p.T847A

c.2539A>G

1 paper

NM_002894.3

p.T847R

c.2540C>G

1 paper

NM_002894.3

p.E849G

c.2546A>G