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.Y522C

c.1565A>G

Surrounding Variants

1 paper

NM_002894.3

p.Y522F

c.1565A>T

1 paper

NM_002894.3

p.Y522H

c.1564T>C

1 paper

NM_002894.3

p.T520S

c.1559C>G

1 paper

NM_002894.3

p.T520S

c.1558A>T

2 papers

NM_002894.3

p.K526R

c.1577A>G

1 paper

NM_002894.3

p.Q518R

c.1553A>G

1 paper

NM_002894.3

p.Q518L

c.1553A>T

1 paper

NM_002894.3

p.R517K

c.1550G>A

1 paper

NM_002894.3

p.F516L

c.1548T>A

1 paper

NM_002894.3

p.I528N

c.1583T>A

1 paper

NM_002894.3

p.I528T

c.1583T>C

1 paper

NM_002894.3

p.K515R

c.1544A>G