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

1 paper

NM_002895.5

p.I45L

c.133A>C

Surrounding Variants

1 paper

NM_002895.5

p.A44G

c.131C>G

1 paper

NM_002895.5

p.F42Y

c.125T>A

1 paper

NM_002895.5

p.N48K

c.144C>G

1 paper

NM_002895.5

p.N48K

c.144C>A

1 paper

NM_002895.5

p.D41N

c.121G>A

1 paper

NM_002895.5

p.S50I

c.149G>T

1 paper

NM_002895.5

p.L51V

c.151C>G

1 paper

NM_002895.5

p.A36A

c.108C>A

1 paper

NM_002895.5

p.D31E

c.93C>A

1 paper

NM_002895.5

p.L30M

c.88C>A

2 papers

NM_002895.5

p.N29S

c.86A>G

2 papers

NM_002895.5

p.L24L

c.72G>A