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.Q501R

c.1502A>G

Surrounding Variants

1 paper

NM_002894.3

p.I500I

c.1500T>A

2 papers

NM_002894.3

p.R502L

c.1505G>T

1 paper

NM_002894.3

p.A499T

c.1495G>A

1 paper

NM_002894.3

p.E504G

c.1511A>G

1 paper

NM_002894.3

p.S498*

c.1493C>A

1 paper

NM_002894.3

p.K505N

c.1515A>T

1 paper

NM_002894.3

p.S506C

c.1516A>T

1 paper

NM_002894.3

p.S506T

c.1517G>C

2 papers

NM_002894.3

p.R496*

c.1486C>T

1 paper

NM_002894.3

p.D495E

c.1485T>A

1 paper

NM_002894.3

p.D495E

c.1485T>G

1 paper

NM_002894.3

p.D495G

c.1484A>G