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.D540N

c.1618G>A

Surrounding Variants

1 paper

NM_002894.3

p.D540G

c.1619A>G

1 paper

NM_002894.3

p.G541_N542insFs

c.1621_1625dup5

1 paper

NM_002894.3

p.S539P

c.1615T>C

1 paper

NM_002894.3

p.N542Y

c.1624A>T

1 paper

NM_002894.3

p.N542fs

c.1624_1625fs

1 paper

NM_002894.3

p.A538T

c.1612G>A

1 paper

NM_002894.3

p.N542S

c.1625A>G

1 paper

NM_002894.3

p.K537M

c.1610A>T

1 paper

NM_002894.3

p.K537E

c.1609A>G

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.S535_D540Fs

c.1603_1620delinsGGFs