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.S365G

c.1093A>G

Surrounding Variants

1 paper

NM_002894.3

p.T367delFs

c.1100delC

1 paper

NM_002894.3

p.L362fs

c.1084_1085fs

1 paper

NM_002894.3

p.T361_L362insFs

c.1083_1084ins5

1 paper

NM_002894.3

p.C368W

c.1104T>G

1 paper

NM_002894.3

p.I369V

c.1105A>G

1 paper

NM_002894.3

p.K360N

c.1080A>T

1 paper

NM_002894.3

p.K360I

c.1079A>T

1 paper

NM_002894.3

p.K360E

c.1078A>G

1 paper

NM_002894.3

p.K360*

c.1078A>T

1 paper

NM_002894.3

p.S370C

c.1109C>G

1 paper

NM_002894.3

p.S370F

c.1109C>T

1 paper

NM_002894.3

p.L359Q

c.1076T>A