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.I586N

c.1757T>A

Surrounding Variants

1 paper

NM_002894.3

p.K585*

c.1753A>T

1 paper

NM_002894.3

p.P587P

c.1761T>A

1 paper

NM_002894.3

p.L588Q

c.1763T>A

1 paper

NM_002894.3

p.V583V

c.1749C>A

7 papers

NM_002894.3

p.R589H

c.1766G>A

1 paper

NM_002894.3

p.V583G

c.1748T>G

1 paper

NM_002894.3

p.V583I

c.1747G>A

1 paper

NM_002894.3

p.A582V

c.1745C>T

1 paper

NM_002894.3

p.R591H

c.1772G>A

1 paper

NM_002894.3

p.E592*

c.1774G>T

1 paper

NM_002894.3

p.K578R

c.1733A>G

1 paper

NM_002894.3

p.K578*

c.1732A>T