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Results for the Protein: O15111
317373368

IKKA_HUMAN RecName: Full=Inhibitor of nuclear factor kappa-B kinase subunit alpha; Short=I-kappa-B kinase alpha; Short=IKK-A; Short=IKK-alpha; Short=IkBKA; Short=IkappaB kinase; AltName: Full=Conserved helix-loop-helix ubiquitous kinase; AltName: Full=I-kappa-B kinase 1; Short=IKK1; AltName: Full=Nuclear factor NF-kappa-B inhibitor kinase alpha; Short=NFKBIKA; AltName: Full=Transcription factor 16; Short=TCF-16

Known Diseases associated with this Protein:
  COCOON SYNDROME
1
3
1
2
1
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Default View:

Pkinase_Tyr - pfam07714
STYKc - smart00221
TyrKc - smart00219
S_TKc - smart00220
IKKbetaNEMObind - pfam12179


Swiss-Prot Protein: O15111
Identical to: NP_001269
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pkinase_Tyrpfam077144.8e-1415295
TyrKcsmart002191.8e-1415301
STYKcsmart002213.5e-6015299
S_TKcsmart002208.8e-6825301
IKKbetaNEMObindpfam121795e-19706743

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_040565Polymorphismp.SER126CYSN/A
dbSNPrs2230803 Polymorphismp.VAL155ALAN/A
dbSNPrs2230804 Polymorphismp.VAL268ILEN/A
OMIM600664.0001 Diseasep.GLN422TERCOCOON SYNDROME



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