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.S454N

c.1361G>A

Surrounding Variants

1 paper

NM_002894.3

p.E453K

c.1357G>A

5 papers

NM_002894.3

p.H456R

c.1367A>G

1 paper

NM_002894.3

p.H456Q

c.1368T>A

1 paper

NM_002894.3

p.H456Q

c.1368T>G

1 paper

NM_002894.3

p.E451G

c.1352A>G

1 paper

NM_002894.3

p.T450A

c.1348A>G

1 paper

NM_002894.3

p.K449E

c.1345A>G

1 paper

NM_002894.3

p.K448R

c.1343A>G

1 paper

NM_002894.3

p.C460S

c.1379G>C

1 paper

NM_002894.3

p.C460insFs

c.1379_1380insAA

1 paper

NM_002894.3

p.K448*

c.1342A>T

1 paper

NM_002894.3

p.Q462*

c.1384C>T