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.S313T

c.937T>A

Surrounding Variants

1 paper

NM_002894.3

p.S313P

c.937T>C

1 paper

NM_002894.3

p.T312T

c.936T>A

1 paper

NM_002894.3

p.K314E

c.940A>G

7 papers

NM_002894.3

p.T315A

c.943A>G

1 paper

NM_002894.3

p.P316S

c.946C>T

1 paper

NM_002894.3

p.D310N

c.928G>A

1 paper

NM_002894.3

p.S309L

c.926C>T

1 paper

NM_002894.3

p.P317L

c.950C>T

1 paper

NM_002894.3

p.F308Y

c.923T>A

1 paper

NM_002894.3

p.P317P

c.951T>A

1 paper

NM_002894.3

p.F308S

c.923T>C

1 paper

NM_002894.3

p.F308L

c.922T>C