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.L321F

c.963A>C

Surrounding Variants

1 paper

NM_002894.3

p.L321F

c.963A>T

1 paper

NM_002894.3

p.L321L

c.961T>C

2 papers

NM_002894.3

p.E320G

c.959A>G

1 paper

NM_002894.3

p.T323I

c.968C>T

1 paper

NM_002894.3

p.E320K

c.958G>A

1 paper

NM_002894.3

p.E320*

c.958G>T

1 paper

NM_002894.3

p.E319G

c.956A>G

1 paper

NM_002894.3

p.R324G

c.970C>G

1 paper

NM_002894.3

p.Q318R

c.953A>G

1 paper

NM_002894.3

p.V325E

c.974T>A

1 paper

NM_002894.3

p.P317P

c.951T>A

1 paper

NM_002894.3

p.P317L

c.950C>T