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Results for the Protein: NP_001161417
269308235
783

voltage-dependent L-type calcium channel subunit beta-2 isoform 9 [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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Guanylate_kinpfam006252.2e-81215394
VGCC_beta4Aa_Npfam120521.3e-204485
SH3smart003260.0002487152
GuKcsmart000721.5e-48214395

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs58225473 Polymorphismp.ASP589GLUN/A
OMIM600003.0001 Diseasep.SER415LEUBRUGADA SYNDROME 4



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