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Results for the Protein: Q08289
145559447
783

CACB2_HUMAN RecName: Full=Voltage-dependent L-type calcium channel subunit beta-2; Short=CAB2; AltName: Full=Calcium channel voltage-dependent subunit beta 2; AltName: Full=Lambert-Eaton myasthenic syndrome antigen B; Short=MYSB

Known Diseases associated with this Protein:
  BRUGADA SYNDROME 4
  BRUGADA SYNDROME 4 (BRGDA4)
2
2
1
1
2
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Default View:

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


Swiss-Prot Protein: Q08289
Identical to: NP_963890
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Guanylate_kinpfam006252.2e-81281460
VGCC_beta4Aa_Npfam120521.3e-2072113
SH3smart003260.00024115180
GuKcsmart000721.5e-48280461

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036350Polymorphismp.ALA99GLYN/A
dbSNPrs58225473 Polymorphismp.ASP655GLUN/A
Swiss-ProtVAR_044041Diseasep.SER535LEUBrugada syndrome 4 (BRGDA4)
OMIM600003.0001 Diseasep.SER481LEUBRUGADA SYNDROME 4



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