Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_036593
151101235

TERF1-interacting nuclear factor 2 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
  REVESZ SYNDROME, INCLUDED
6
1
6
1
0
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:



RefSeq Protein: NP_036593
   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 ↕
dbSNPrs17102313 Polymorphismp.GLY237ASPN/A
OMIM604319.0004 Diseasep.ARG282CYSDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
OMIM604319.0002 Diseasep.ARG282HISDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3||REVESZ SYNDROME, INCLUDED
OMIM604319.0003 Diseasep.ARG282SERDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
OMIM604319.0005 Diseasep.GLN269TERDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
OMIM604319.0007 Diseasep.GLN271TERDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
OMIM604319.0001 Diseasep.LYS280GLUDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3



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