Varaico: Literature-Extracted Genetic Variants

RB1

3,179 papers

RefSeq Summary

The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain t...

Pfam Domains

DUF3452aa 109–228UCSCDomain of unknown function (DUF3452)

RB_Aaa 373–573UCSCRetinoblastoma-associated protein A domain

RB_Baa 646–765UCSCRetinoblastoma-associated protein B domain

Rb_Caa 768–909UCSCRb C-terminal domain

Gene Aliases

HGNC Name

RB transcriptional corepressor 1

HGNC Previous Symbol

OSRC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000321.3

p.Y454C

c.1361A>G

Surrounding Variants

1 paper

NM_000321.3

p.R455_S459insFs

c.1364_1377dup14

1 paper

NM_000321.3

p.R455delFs

c.1363delC

8 papers

NM_000321.3

p.Y454*

c.1362C>A

1 paper

NM_000321.3

p.Y454_R455ins1

c.1362_1363insGGT

9 papers

NM_000321.3

p.Y454*

c.1362C>G

1 paper

NM_000321.3

p.Y454H

c.1360T>C

1 paper

NM_000321.3

p.Y454D

c.1360T>G

1 paper

NM_000321.3

p.R455fs

c.1363_1364fs

101 papers

NM_000321.3

p.R455*

c.1363C>T

1 paper

NM_000321.3

p.Y453*

c.1359T>A

1 paper

NM_000321.3

p.Y453C

c.1358A>G

2 papers

NM_000321.3

p.R455Q

c.1364G>A