Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q96SD1
71153325

DCR1C_HUMAN RecName: Full=Protein artemis; AltName: Full=DNA cross-link repair 1C protein; AltName: Full=Protein A-SCID; AltName: Full=SNM1 homolog C; Short=hSNM1C; AltName: Full=SNM1-like protein

Known Diseases associated with this Protein:
  OMENN SYNDROME
  OMENN SYNDROME (OS)
  SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
  SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN-TYPE
4
8
3
3
6
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:

DRMBL - pfam07522


Swiss-Prot Protein: Q96SD1
Identical to: NP_001029027
   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 ↕
Swiss-ProtVAR_060689Polymorphismp.ALA140VALN/A
Swiss-ProtVAR_060690Polymorphismp.GLY153ARGN/A
Swiss-ProtVAR_023079Polymorphismp.GLY135GLUN/A
Swiss-ProtVAR_023078Polymorphismp.GLY118VALN/A
dbSNPrs12768894 Polymorphismp.HIS243ARGN/A
Swiss-ProtVAR_023077Diseasep.HIS35ASPOmenn syndrome (OS)
Swiss-ProtVAR_060691Polymorphismp.LEU329METN/A
dbSNPrs35441642 Polymorphismp.PRO171ARGN/A
dbSNPrs41298896 Polymorphismp.SER320CYSN/A
OMIM605988.0001 Diseasep.ARG74TERSEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
OMIM605988.0013 Diseasep.HIS35ASPOMENN SYNDROME
OMIM605988.0009 Diseasep.TYR192TERSEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN-TYPE



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