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.K357N

c.1071A>C

Surrounding Variants

1 paper

NM_002894.3

p.K357N

c.1071A>T

1 paper

NM_002894.3

p.K357R

c.1070A>G

1 paper

NM_002894.3

p.H358fs

c.1072_1073fs

8 papers

NM_002894.3

p.H358fs

c.1072_1073fs

1 paper

NM_002894.3

p.K357fs

c.1069_1070fs

5 papers

NM_002894.3

p.K357fs

c.1069_1070fs

1 paper

NM_002894.3

p.H358Q

c.1074T>A

1 paper

NM_002894.3

p.L359Q

c.1076T>A

1 paper

NM_002894.3

p.K355R

c.1064A>G

1 paper

NM_002894.3

p.K360E

c.1078A>G

1 paper

NM_002894.3

p.K360*

c.1078A>T

4 papers

NM_002894.3

p.K355fs

c.1063_1064fs