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.I369V

c.1105A>G

Surrounding Variants

1 paper

NM_002894.3

p.C368W

c.1104T>G

1 paper

NM_002894.3

p.S370C

c.1109C>G

1 paper

NM_002894.3

p.S370F

c.1109C>T

1 paper

NM_002894.3

p.T367delFs

c.1100delC

2 papers

NM_002894.3

p.L372*

c.1115T>A

1 paper

NM_002894.3

p.L372S

c.1115T>C

1 paper

NM_002894.3

p.L372*

c.1115T>G

1 paper

NM_002894.3

p.S365G

c.1093A>G

1 paper

NM_002894.3

p.E373K

c.1117G>A

1 paper

NM_002894.3

p.E373G

c.1118A>G

1 paper

NM_002894.3

p.K374*

c.1120A>T

1 paper

NM_002894.3

p.K374R

c.1121A>G