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

1–12 of 189 variants

3 papers

NM_002895.5

p.R517C

c.1549C>T

2 papers

NM_002895.5

p.L24L

c.72G>A

2 papers

NM_002895.5

p.N29S

c.86A>G

2 papers

NM_002895.5

p.Q220*

c.658C>T

2 papers

NM_002895.5

p.S232C

c.695C>G

2 papers

NM_002895.5

p.S650A

c.1948T>G

1 paper

NM_002895.5

p.A12S

c.34G>T

1 paper

NM_002895.5

p.A12A

c.36G>C

1 paper

NM_002895.5

p.V14insFs

c.40_41ins16

1 paper

NM_002895.5

p.V14D

c.41T>A

1 paper

NM_002895.5

p.A15P

c.43G>C

1 paper

NM_002895.5

p.A15T

c.43G>A