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Results for the Protein: Q96KJ9
73620953

COX42_HUMAN RecName: Full=Cytochrome c oxidase subunit 4 isoform 2, mitochondrial; AltName: Full=Cytochrome c oxidase subunit IV isoform 2; Short=COX IV-2; Flags: Precursor

Known Diseases associated with this Protein:
  EXOCRINE PANCREATIC INSUFFICIENCY DYSERYTHROPOIETIC ANEMIA AND CALVARIAL HYPEROSTOSIS (EPIDACH)
  EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL
  HYPEROSTOSIS
2
1
1
1
1
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Default View:

Cyt_c_Oxidase_IV - cd00922
COX4 - pfam02936


Swiss-Prot Protein: Q96KJ9
Identical to: NP_115998
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COX4pfam029361.5e-4229171

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs11907253 Polymorphismp.ARG161HISN/A
Swiss-ProtVAR_058101Diseasep.GLU138LYSExocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH)
OMIM607976.0001 Diseasep.GLU138LYSEXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL||HYPEROSTOSIS



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