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Results for the Protein: Q01668
116241275
776

CAC1D_HUMAN RecName: Full=Voltage-dependent L-type calcium channel subunit alpha-1D; AltName: Full=Calcium channel, L type, alpha-1 polypeptide, isoform 2; AltName: Full=Voltage-gated calcium channel subunit alpha Cav1.3

Known Diseases associated with this Protein:
  PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
1
1
1
0
1
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Default View:

Ion_trans - pfam00520
Ca_chan_IQ - pfam08763


Swiss-Prot Protein: Q01668
Identical to: NP_001122312
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005204e-77163405
Ion_transpfam005202.4e-61557751
Ion_transpfam005209.4e-749211151
Ion_transpfam005204e-7512391463
Ca_chan_IQpfam087635.3e-1815991630

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_061103Polymorphismp.ASP2097ASNN/A
OMIM114206.0003 Diseasep.ILE750METPRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES



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