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

3 papers

NM_002894.3

p.S347A

c.1039T>G

Surrounding Variants

1 paper

NM_002894.3

p.L346S

c.1037T>C

1 paper

NM_002894.3

p.P348S

c.1042C>T

1 paper

NM_002894.3

p.L346M

c.1036T>A

1 paper

NM_002894.3

p.P348P

c.1044T>A

1 paper

NM_002894.3

p.S345G

c.1033A>G

1 paper

NM_002894.3

p.S345C

c.1033A>T

1 paper

NM_002894.3

p.T344R

c.1031C>G

1 paper

NM_002894.3

p.T344I

c.1031C>T

1 paper

NM_002894.3

p.T344A

c.1030A>G

1 paper

NM_002894.3

p.N343S

c.1028A>G

1 paper

NM_002894.3

p.L350L

c.1050T>A

1 paper

NM_002894.3

p.L342*

c.1025T>A