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.L561H

c.1682T>A

Surrounding Variants

1 paper

NM_002894.3

p.C558F

c.1673G>T

1 paper

NM_002894.3

p.E557V

c.1670A>T

1 paper

NM_002894.3

p.S555A

c.1663T>G

1 paper

NM_002894.3

p.S568T

c.1702T>A

1 paper

NM_002894.3

p.S568P

c.1702T>C

2 papers

NM_002894.3

p.S568A

c.1702T>G

1 paper

NM_002894.3

p.C554Y

c.1661G>A

1 paper

NM_002894.3

p.C554S

c.1660T>A

1 paper

NM_002894.3

p.E552E

c.1656G>A

1 paper

NM_002894.3

p.E552D

c.1656G>C

1 paper

NM_002894.3

p.E552D

c.1656G>T

1 paper

NM_002894.3

p.D570G

c.1709A>G