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.N395S

c.1184A>G

Surrounding Variants

1 paper

NM_002894.3

p.N395Y

c.1183A>T

1 paper

NM_002894.3

p.V394M

c.1180G>A

1 paper

NM_002894.3

p.I397V

c.1189A>G

1 paper

NM_002894.3

p.I397F

c.1189A>T

1 paper

NM_002894.3

p.E393V

c.1178A>T

1 paper

NM_002894.3

p.I397T

c.1190T>C

1 paper

NM_002894.3

p.S392T

c.1174T>A

1 paper

NM_002894.3

p.L390H

c.1169T>A

1 paper

NM_002894.3

p.L390P

c.1169T>C

1 paper

NM_002894.3

p.L390F

c.1168C>T

1 paper

NM_002894.3

p.S401P

c.1201T>C

1 paper

NM_002894.3

p.S402S

c.1206T>G