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.K337N

c.1011A>C

Surrounding Variants

1 paper

NM_002894.3

p.K337N

c.1011A>T

4 papers

NM_002894.3

p.K337E

c.1009A>G

1 paper

NM_002894.3

p.K337*

c.1009A>T

1 paper

NM_002894.3

p.S335C

c.1003A>T

1 paper

NM_002894.3

p.L342V

c.1024T>G

1 paper

NM_002894.3

p.T333A

c.997A>G

1 paper

NM_002894.3

p.L342*

c.1025T>A

1 paper

NM_002894.3

p.N343S

c.1028A>G

1 paper

NM_002894.3

p.G331G

c.993A>G

1 paper

NM_002894.3

p.G331G

c.993A>T

1 paper

NM_002894.3

p.T344A

c.1030A>G

3 papers

NM_002894.3

p.G331A

c.992G>C