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.S568P

c.1702T>C

Surrounding Variants

1 paper

NM_002894.3

p.S568T

c.1702T>A

2 papers

NM_002894.3

p.S568A

c.1702T>G

1 paper

NM_002894.3

p.D570G

c.1709A>G

1 paper

NM_002894.3

p.D570E

c.1710C>A

1 paper

NM_002894.3

p.D570E

c.1710C>G

1 paper

NM_002894.3

p.N571D

c.1711A>G

1 paper

NM_002894.3

p.N571S

c.1712A>G

1 paper

NM_002894.3

p.K572T

c.1715A>C

3 papers

NM_002894.3

p.S574T

c.1720T>A

1 paper

NM_002894.3

p.S574P

c.1720T>C

1 paper

NM_002894.3

p.L561H

c.1682T>A

1 paper

NM_002894.3

p.L575*

c.1724T>A