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.T95I

c.284C>T

Surrounding Variants

1 paper

NM_002894.3

p.T95S

c.283A>T

1 paper

NM_002894.3

p.E96G

c.287A>G

1 paper

NM_002894.3

p.V94E

c.281T>A

1 paper

NM_002894.3

p.V94A

c.281T>C

1 paper

NM_002894.3

p.E97*

c.289G>T

1 paper

NM_002894.3

p.E97V

c.290A>T

1 paper

NM_002894.3

p.A93V

c.278C>T

1 paper

NM_002894.3

p.A93S

c.277G>T

1 paper

NM_002894.3

p.C92*

c.276T>A

2 papers

NM_002894.3

p.H98L

c.293A>T

1 paper

NM_002894.3

p.H98Q

c.294T>A

1 paper

NM_002894.3

p.C92R

c.274T>C