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.K578R

c.1733A>G

Surrounding Variants

1 paper

NM_002894.3

p.K578*

c.1732A>T

1 paper

NM_002894.3

p.I577T

c.1730T>C

1 paper

NM_002894.3

p.Q576R

c.1727A>G

1 paper

NM_002894.3

p.Q576*

c.1726C>T

1 paper

NM_002894.3

p.L575*

c.1724T>A

1 paper

NM_002894.3

p.A582V

c.1745C>T

3 papers

NM_002894.3

p.S574T

c.1720T>A

1 paper

NM_002894.3

p.S574P

c.1720T>C

1 paper

NM_002894.3

p.V583I

c.1747G>A

1 paper

NM_002894.3

p.V583G

c.1748T>G

1 paper

NM_002894.3

p.V583V

c.1749C>A

1 paper

NM_002894.3

p.K572T

c.1715A>C