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.S535_D540Fs

c.1603_1620delinsGGFs

Surrounding Variants

1 paper

NM_002894.3

p.R536H

c.1607G>A

1 paper

NM_002894.3

p.R536L

c.1607G>T

1 paper

NM_002894.3

p.K537E

c.1609A>G

1 paper

NM_002894.3

p.K537M

c.1610A>T

1 paper

NM_002894.3

p.F532L

c.1596T>A

1 paper

NM_002894.3

p.F532L

c.1596T>G

1 paper

NM_002894.3

p.F532S

c.1595T>C

1 paper

NM_002894.3

p.A538T

c.1612G>A

1 paper

NM_002894.3

p.F532L

c.1594T>C

1 paper

NM_002894.3

p.S539P

c.1615T>C

1 paper

NM_002894.3

p.K530M

c.1589A>T

1 paper

NM_002894.3

p.D540N

c.1618G>A