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Results for the Protein: Q86Y56
317373567

HEAT2_HUMAN RecName: Full=HEAT repeat-containing protein 2

Known Diseases associated with this Protein:
  CILIARY DYSKINESIA, PRIMARY, 18 (CILD18)
  CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS
2
3
1
2
2
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Default View:

HEAT - pfam02985


Swiss-Prot Protein: Q86Y56
Identical to: NP_060272
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HEATpfam029850.00014744774

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060463Polymorphismp.ARG560CYSN/A
dbSNPrs3922641 Polymorphismp.ARG743LYSN/A
Swiss-ProtVAR_068969Diseasep.LEU795PROCiliary dyskinesia, primary, 18 (CILD18)
dbSNPrs4720951 Polymorphismp.VAL632ALAN/A
OMIM614864.0001 Diseasep.LEU795PROCILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS



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