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

33 papers

NM_002894.3

p.Y283N

c.847T>A

Surrounding Variants

1 paper

NM_002894.3

p.Y283C

c.848A>G

1 paper

NM_002894.3

p.Y283F

c.848A>T

1 paper

NM_002894.3

p.E281E

c.843G>A

1 paper

NM_002894.3

p.E281G

c.842A>G

1 paper

NM_002894.3

p.E281*

c.841G>T

1 paper

NM_002894.3

p.D280G

c.839A>G

1 paper

NM_002894.3

p.D280V

c.839A>T

4 papers

NM_002894.3

p.C285*

c.855T>A

1 paper

NM_002894.3

p.L286P

c.857T>C

1 paper

NM_002894.3

p.G279S

c.835G>A

1 paper

NM_002894.3

p.L278L

c.834T>A

1 paper

NM_002894.3

p.E287D

c.861A>T