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.K102R

c.305A>G

Surrounding Variants

1 paper

NM_002894.3

p.K102*

c.304A>T

1 paper

NM_002894.3

p.Q103*

c.307C>T

1 paper

NM_002894.3

p.Q103R

c.308A>G

1 paper

NM_002894.3

p.Q103L

c.308A>T

1 paper

NM_002894.3

p.K101E

c.301A>G

1 paper

NM_002894.3

p.Q104*

c.310C>T

1 paper

NM_002894.3

p.Q104R

c.311A>G

11 papers

NM_002894.3

p.R100W

c.298C>T

1 paper

NM_002894.3

p.E105A

c.314A>C

2 papers

NM_002894.3

p.E105G

c.314A>G

1 paper

NM_002894.3

p.E105V

c.314A>T

1 paper

NM_002894.3

p.M99K

c.296T>A