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.E510Q

c.1528G>C

Surrounding Variants

1 paper

NM_002894.3

p.Q507R

c.1520A>G

1 paper

NM_002894.3

p.K513R

c.1538A>G

1 paper

NM_002894.3

p.S506T

c.1517G>C

1 paper

NM_002894.3

p.N514D

c.1540A>G

1 paper

NM_002894.3

p.S506C

c.1516A>T

1 paper

NM_002894.3

p.N514S

c.1541A>G

1 paper

NM_002894.3

p.K505N

c.1515A>T

1 paper

NM_002894.3

p.K515*

c.1543A>T

1 paper

NM_002894.3

p.K515R

c.1544A>G

1 paper

NM_002894.3

p.E504G

c.1511A>G

1 paper

NM_002894.3

p.F516L

c.1548T>A

1 paper

NM_002894.3

p.R517K

c.1550G>A