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.E418K

c.1252G>A

Surrounding Variants

1 paper

NM_002894.3

p.G417V

c.1250G>T

1 paper

NM_002894.3

p.Q419K

c.1255C>A

1 paper

NM_002894.3

p.R421W

c.1261A>T

2 papers

NM_002894.3

p.E414D

c.1242A>C

2 papers

NM_002894.3

p.E414D

c.1242A>T

1 paper

NM_002894.3

p.T422S

c.1264A>T

1 paper

NM_002894.3

p.E414K

c.1240G>A

1 paper

NM_002894.3

p.T422S

c.1265C>G

1 paper

NM_002894.3

p.S413R

c.1239T>A

1 paper

NM_002894.3

p.S413C

c.1237A>T

1 paper

NM_002894.3

p.E423_Y424insA

c.1267_1271ins3

1 paper

NM_002894.3

p.E423G

c.1268A>G