Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q9NZ71
229462743

RTEL1_HUMAN RecName: Full=Regulator of telomere elongation helicase 1; AltName: Full=Novel helicase-like

Known Diseases associated with this Protein:
  DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 4 (DKCA4)
  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 (DKCB5)
11
10
0
3
18
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:

DinG - COG1199
DEXDc2 - smart00488
- smart00489
DEAD_2 - pfam06733
- smart00492
HELICc2 - smart00491


Swiss-Prot Protein: Q9NZ71
Identical to: NP_057518
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DinGCOG11999e-463751
smart004893.3e-629291
DEXDc2smart004883.3e-629291
DEAD_2pfam067334.2e-85111272
HELICc2smart004912.1e-73563717
smart004921.1e-19563717

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069730Polymorphismp.ALA1059THRN/A
Swiss-ProtVAR_069717Diseasep.ALA621THRDyskeratosis congenita, autosomal dominant, 4 (DKCA4)
Swiss-ProtVAR_069726Polymorphismp.ALA929THRN/A
Swiss-ProtVAR_069718Polymorphismp.ARG684GLNN/A
Swiss-ProtVAR_069727Diseasep.ARG957TRPDyskeratosis congenita, autosomal recessive, 5 (DKCB5)
dbSNPrs3848668 Polymorphismp.ASN124SERN/A
dbSNPrs61753459 Polymorphismp.ASP704GLUN/A
Swiss-ProtVAR_054971Polymorphismp.GLN1042HISN/A
Swiss-ProtVAR_069723Polymorphismp.GLN829PRON/A
Swiss-ProtVAR_069716Diseasep.GLU591ASPDyskeratosis congenita, autosomal recessive, 5 (DKCB5)
dbSNPrs61736614 Polymorphismp.GLU941ASPN/A
Swiss-ProtVAR_069714Diseasep.GLU251LYSDyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-ProtVAR_069724Polymorphismp.GLY849ASPN/A
Swiss-ProtVAR_069721Diseasep.GLY739VALDyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-ProtVAR_069719Diseasep.ILE699METDyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-ProtVAR_069720Diseasep.LEU710ARGDyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-ProtVAR_069725Diseasep.LYS897GLUDyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-ProtVAR_069715Diseasep.MET492ILEDyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-ProtVAR_069728Diseasep.PHE964LEUDyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-ProtVAR_069729Polymorphismp.PRO1034HISN/A
Swiss-ProtVAR_069722Diseasep.VAL745METDyskeratosis congenita, autosomal recessive, 5 (DKCB5)



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