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.S276G

c.826A>G

Surrounding Variants

1 paper

NM_002894.3

p.M275I

c.825G>A

1 paper

NM_002894.3

p.M275I

c.825G>C

1 paper

NM_002894.3

p.M275I

c.825G>T

1 paper

NM_002894.3

p.M275T

c.824T>C

1 paper

NM_002894.3

p.P277A

c.829C>G

1 paper

NM_002894.3

p.P274P

c.822C>A

1 paper

NM_002894.3

p.P274L

c.821C>T

1 paper

NM_002894.3

p.L278H

c.833T>A

1 paper

NM_002894.3

p.L278L

c.834T>A

1 paper

NM_002894.3

p.G279S

c.835G>A

1 paper

NM_002894.3

p.Q272R

c.815A>G

1 paper

NM_002894.3

p.Q272E

c.814C>G