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Results for the Protein: NP_001005746
54607066
785

voltage-dependent L-type calcium channel subunit beta-4 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9
  EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
  EPISODIC ATAXIA, TYPE 5, INCLUDED
2
1
2
1
0
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Default View:

VGCC_beta4Aa_N - pfam12052
SH3 - smart00326
SH3 - cd00174
GuKc - smart00072
Guanylate_kin - pfam00625




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Guanylate_kinpfam006254.5e-76201380
VGCC_beta4Aa_Npfam120523.7e-203273
SH3smart003264.4e-0575141
GuKcsmart000721e-43200381

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs62638755 Polymorphismp.SER171PHEN/A
OMIM601949.0001 Diseasep.ARG464TEREPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
OMIM601949.0002 Diseasep.CYS86PHEEPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9||EPISODIC ATAXIA, TYPE 5, INCLUDED



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