Varaico: Literature-Extracted Genetic Variants

RBL1

216 papers

RefSeq Summary

The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be i...

Pfam Domains

DUF3452aa 77–212UCSCDomain of unknown function (DUF3452)

RB_Aaa 385–578UCSCRetinoblastoma-associated protein A domain

RB_Baa 787–943UCSCRetinoblastoma-associated protein B domain

Rb_Caa 953–1053UCSCRb C-terminal domain

Gene Aliases

HGNC Name

RB transcriptional corepressor like 1

HGNC Alias Symbols

p107; cp107

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002895.5

p.S650A

c.1948T>G

Surrounding Variants

1 paper

NM_002895.5

p.P651A

c.1951C>G

1 paper

NM_002895.5

p.G654G

c.1962G>T

1 paper

NM_002895.5

p.S640A

c.1918T>G

1 paper

NM_002895.5

p.P638S

c.1912C>T

1 paper

NM_002895.5

p.A684T

c.2050G>A

1 paper

NM_002895.5

p.P698L

c.2093C>T

1 paper

NM_002895.5

p.Q700H

c.2100A>T

1 paper

NM_002895.5

p.Q700H

c.2100A>C

1 paper

NM_002895.5

p.T701P

c.2101A>C

1 paper

NM_002895.5

p.T719A

c.2155A>G

1 paper

NM_002895.5

p.T733I

c.2198C>T

1 paper

NM_002895.5

p.V774I

c.2320G>A