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.L491P

c.1472T>C

Surrounding Variants

1 paper

NM_002895.5

p.V490F

c.1468G>T

1 paper

NM_002895.5

p.D495H

c.1483G>C

1 paper

NM_002895.5

p.Y513C

c.1538A>G

3 papers

NM_002895.5

p.R517C

c.1549C>T

1 paper

NM_002895.5

p.Y532H

c.1594T>C

1 paper

NM_002895.5

p.E545Q

c.1633G>C

1 paper

NM_002895.5

p.E545G

c.1634A>G

1 paper

NM_002895.5

p.E545D

c.1635G>T

1 paper

NM_002895.5

p.E545D

c.1635G>C

1 paper

NM_002895.5

p.G546V

c.1637G>T

1 paper

NM_002895.5

p.E559*

c.1675G>T

1 paper

NM_002895.5

p.E559K

c.1675G>A