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Results for the Protein: Q4G0X9
158706471

CCD40_HUMAN RecName: Full=Coiled-coil domain-containing protein 40

Known Diseases associated with this Protein:
  CILIARY DYSKINESIA, PRIMARY, 15
3
8
3
7
1
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Default View:

BRE1 - pfam08647


Swiss-Prot Protein: Q4G0X9
Identical to: NP_060420
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRE1pfam086474.6e-28780879

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_035193Polymorphismp.ALA8PRON/A
dbSNPrs61749025 Polymorphismp.ARG870CYSN/A
dbSNPrs2289531 Polymorphismp.ARG291SERN/A
dbSNPrs116824266 Polymorphismp.ARG483SERN/A
dbSNPrs2289527 Polymorphismp.ARG69SERN/A
dbSNPrs61749058 Polymorphismp.PRO630LEUN/A
dbSNPrs60684213 Polymorphismp.PRO775THRN/A
dbSNPrs2885349 Polymorphismp.SER169ARGN/A
OMIM613799.0004 Diseasep.ARG449TERCILIARY DYSKINESIA, PRIMARY, 15
OMIM613799.0002 Diseasep.GLN439TERCILIARY DYSKINESIA, PRIMARY, 15
OMIM613799.0003 Diseasep.GLN651TERCILIARY DYSKINESIA, PRIMARY, 15



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