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Results for the Protein: NP_000715
148232726
783

voltage-dependent L-type calcium channel subunit beta-2 isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  BRUGADA SYNDROME 4
1
1
1
1
0
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Default View:

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


RefSeq Protein: NP_000715
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Guanylate_kinpfam006252.2e-81226405
VGCC_beta4Aa_Npfam120521.3e-201758
SH3smart003260.0002460125
GuKcsmart000721.5e-48225406

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs58225473 Polymorphismp.ASP600GLUN/A
OMIM600003.0001 Diseasep.SER426LEUBRUGADA SYNDROME 4



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