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.S232C

c.695C>G

Surrounding Variants

1 paper

NM_002895.5

p.G229A

c.686G>C

1 paper

NM_002895.5

p.F239V

c.715T>G

1 paper

NM_002895.5

p.P246S

c.736C>T

1 paper

NM_002895.5

p.P246L

c.737C>T

1 paper

NM_002895.5

p.P246R

c.737C>G

1 paper

NM_002895.5

p.E254Q

c.760G>C

1 paper

NM_002895.5

p.K267fs

c.799_800fs

1 paper

NM_002895.5

p.L222M

c.664T>A

2 papers

NM_002895.5

p.Q220*

c.658C>T

1 paper

NM_002895.5

p.D280E

c.840C>G

1 paper

NM_002895.5

p.D280E

c.840C>A

1 paper

NM_002895.5

p.M215I

c.645G>T