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.K115T

c.344A>C

Surrounding Variants

1 paper

NM_002894.3

p.K115I

c.344A>T

1 paper

NM_002894.3

p.K115E

c.343A>G

2 papers

NM_002894.3

p.K115*

c.343A>T

1 paper

NM_002894.3

p.L114L

c.342T>A

1 paper

NM_002894.3

p.L116H

c.347T>A

1 paper

NM_002894.3

p.L116P

c.347T>C

1 paper

NM_002894.3

p.I117T

c.350T>C

1 paper

NM_002894.3

p.N113D

c.337A>G

1 paper

NM_002894.3

p.N113Y

c.337A>T

1 paper

NM_002894.3

p.T118A

c.352A>G

1 paper

NM_002894.3

p.Q112L

c.335A>T

1 paper

NM_002894.3

p.T118K

c.353C>A