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.N477K

c.1431T>A

Surrounding Variants

1 paper

NM_002894.3

p.F479L

c.1435T>C

1 paper

NM_002894.3

p.D476N

c.1426G>A

1 paper

NM_002894.3

p.F479L

c.1437T>A

1 paper

NM_002894.3

p.M475K

c.1424T>A

1 paper

NM_002894.3

p.M475V

c.1423A>G

1 paper

NM_002894.3

p.P474L

c.1421C>T

1 paper

NM_002894.3

p.P474S

c.1420C>T

1 paper

NM_002894.3

p.M481T

c.1442T>C

1 paper

NM_002894.3

p.G483R

c.1447G>A

1 paper

NM_002894.3

p.D484N

c.1450G>A

1 paper

NM_002894.3

p.F471C

c.1412T>G

1 paper

NM_002894.3

p.F471_D476delFs

c.1413_1426del14