Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P06400
132164
RB1

RB_HUMAN RecName: Full=Retinoblastoma-associated protein; AltName: Full=p105-Rb; AltName: Full=pRb; Short=Rb; AltName: Full=pp110

Known Diseases associated with this Protein:
  CHILDHOOD CANCER RETINOBLASTOMA (RB)
  RETINOBLASTOMA
  RETINOBLASTOMA, TRILATERAL
  SMALL CELL CANCER OF THE LUNG, SOMATIC
32
8
10
1
29
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

DUF3452 - pfam11934
RB_A - pfam01858
RB_B - pfam01857
CYCLIN - cd00043
CYCLIN - smart00385
Rb_C - pfam08934


Swiss-Prot Protein: P06400
Identical to: NP_000312
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CYCLINcd000430.00034654761
RB_Apfam018584.5e-129373573
RB_Bpfam018572.2e-76645766
DUF3452pfam119342.4e-3194229
CYCLINsmart003853.1e-10660761
Rb_Cpfam089343.4e-107768927

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4151539 Polymorphismp.ALA525GLYN/A
Swiss-ProtVAR_005580Diseasep.ALA635PROChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_005575Diseasep.ARG358GLNChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_010046Diseasep.ARG358GLYChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_011580Diseasep.ARG500GLYChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_005582Diseasep.ARG661TRPChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_051909Polymorphismp.ASN133HISN/A
Swiss-ProtVAR_005588Diseasep.ASN803LYSChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_051911Polymorphismp.ASP697GLUN/A
Swiss-ProtVAR_005587Diseasep.CYS712ARGChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_005586Diseasep.CYS706TYRChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_019379Polymorphismp.GLN436LYSN/A
Swiss-ProtVAR_005585Diseasep.GLN685PROChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_005573Diseasep.GLU137ASPChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_005572Diseasep.GLU72GLNChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_034442Polymorphismp.GLU746GLYN/A
Swiss-ProtVAR_010045Polymorphismp.GLY310GLUN/A
Swiss-ProtVAR_005584Diseasep.HIS673PROChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_005578Diseasep.HIS549TYRChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_005574Diseasep.ILE185THRChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_051910Polymorphismp.LEU569PHEN/A
Swiss-ProtVAR_010050Diseasep.LEU657PROChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_005583Diseasep.LEU662PROChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_010049Diseasep.LYS530ARGChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_010048Diseasep.LYS447GLNChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_011581Diseasep.LYS616GLUChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_005576Diseasep.MET457ARGChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_005579Diseasep.SER567LEUChildhood cancer retinoblastoma (RB)
Swiss-ProtVAR_069376Polymorphismp.TYR173HISN/A
Swiss-ProtVAR_005581Diseasep.VAL654GLUChildhood cancer retinoblastoma (RB)
OMIM614041.0008 Diseasep.ARG358TERRETINOBLASTOMA
OMIM614041.0003 Diseasep.ARG445TERRETINOBLASTOMA
OMIM614041.0022 Diseasep.ARG556TERRETINOBLASTOMA, TRILATERAL
OMIM614041.0005 Diseasep.ARG787TERRETINOBLASTOMA
OMIM614041.0019 Diseasep.ARG661TRPRETINOBLASTOMA
OMIM614041.0024 Diseasep.CYS712ARGRETINOBLASTOMA
OMIM614041.0020 Diseasep.GLN675TERRETINOBLASTOMA
OMIM614041.0010 Diseasep.GLU748TERSMALL CELL CANCER OF THE LUNG, SOMATIC
OMIM614041.0004 Diseasep.SER567LEURETINOBLASTOMA
OMIM614041.0026 Diseasep.TYR606TERRETINOBLASTOMA



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258