Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q9C0F0
172046234

ASXL3_HUMAN RecName: Full=Putative Polycomb group protein ASXL3; AltName: Full=Additional sex combs-like protein 3

Known Diseases associated with this Protein:
  BAINBRIDGE-ROPERS SYNDROME
2
7
2
6
1
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:



Swiss-Prot Protein: Q9C0F0
Identical to: NP_085135
   Default View:


Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2282632 Polymorphismp.ASN954SERN/A
dbSNPrs75740578 Polymorphismp.GLU1310ALAN/A
dbSNPrs80040227 Polymorphismp.HIS470PRON/A
dbSNPrs61995734 Polymorphismp.ILE1346VALN/A
dbSNPrs16964887 Polymorphismp.MET1415ARGN/A
dbSNPrs7232237 Polymorphismp.MET1708VALN/A
Swiss-ProtVAR_039269Polymorphismp.VAL1652METN/A
OMIM615115.0001 Diseasep.GLN404TERBAINBRIDGE-ROPERS SYNDROME
OMIM615115.0002 Diseasep.GLN466TERBAINBRIDGE-ROPERS SYNDROME



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