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Results for the Protein: Q9BXL6
296434421

CAR14_HUMAN RecName: Full=Caspase recruitment domain-containing protein 14; AltName: Full=CARD-containing MAGUK protein 2; Short=Carma 2

Known Diseases associated with this Protein:
  PITYRIASIS RUBRA PILARIS
  PITYRIASIS RUBRA PILARIS (PRP)
  PSORIASIS 2 (PSORS2)
  PSORIASIS SUSCEPTIBILITY 2
10
18
5
5
18
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Default View:

CARD_CARD14_CARMA2 - cd08806
CARD_CARD9-like - cd08785
CARD_CARD9 - cd08809
CARD_CARD11_CARMA1 - cd08808
CARD_CARD10_CARMA3 - cd08807
CARD - pfam00619
CARD - cd01671
PDZ_signaling - cd00992


Swiss-Prot Protein: Q9BXL6
Identical to: NP_077015
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CARD_CARD10_CARMA3cd088073.1e-3119104
CARD_CARD11_CARMA1cd088086.2e-3319104
CARD_CARD9cd088096.5e-2419104
CARD_CARD14_CARMA2cd088062.3e-7219104
CARDcd016712.9e-1223103
PDZ_signalingcd009929.8e-07569655
CARDpfam006191.2e-2320106

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068222Polymorphismp.ARG38CYSN/A
Swiss-ProtVAR_068223Polymorphismp.ARG62GLNN/A
dbSNPrs34850974 Polymorphismp.ARG962GLNN/A
Swiss-ProtVAR_068231Polymorphismp.ARG179HISN/A
dbSNPrs2289541 Polymorphismp.ARG883HISN/A
dbSNPrs2066964 Polymorphismp.ARG547SERN/A
Swiss-ProtVAR_068236Polymorphismp.ARG682TRPN/A
dbSNPrs11652075 Polymorphismp.ARG820TRPN/A
Swiss-ProtVAR_068238Polymorphismp.ASP973GLUN/A
Swiss-ProtVAR_068234Polymorphismp.ASP285GLYN/A
Swiss-ProtVAR_068230Polymorphismp.ASP176HISN/A
Swiss-ProtVAR_068225Diseasep.GLU138ALAPsoriasis 2 (PSORS2)
Swiss-ProtVAR_068226Diseasep.GLU142GLYPsoriasis 2 (PSORS2)
Swiss-ProtVAR_068227Diseasep.GLU142LYSPsoriasis 2 (PSORS2)
Swiss-ProtVAR_068224Diseasep.GLY117SERPsoriasis 2 (PSORS2)
Swiss-ProtVAR_068237Polymorphismp.GLY714SERN/A
Swiss-ProtVAR_068229Polymorphismp.HIS171ASNN/A
Swiss-ProtVAR_068235Polymorphismp.ILE593ASNN/A
Swiss-ProtVAR_068228Polymorphismp.LEU150ARGN/A
Swiss-ProtVAR_068820Diseasep.LEU156PROPityriasis rubra pilaris (PRP)
Swiss-ProtVAR_068233Polymorphismp.SER200ASNN/A
dbSNPrs34367357 Polymorphismp.VAL585ILEN/A
Swiss-ProtVAR_068232Polymorphismp.VAL191LEUN/A
OMIM607211.0003 Diseasep.GLU138ALAPSORIASIS SUSCEPTIBILITY 2
OMIM607211.0005 Diseasep.GLU142GLYPSORIASIS SUSCEPTIBILITY 2
OMIM607211.0004 Diseasep.GLU142LYSPSORIASIS SUSCEPTIBILITY 2
OMIM607211.0001 Diseasep.GLY117SERPSORIASIS SUSCEPTIBILITY 2
OMIM607211.0006 Diseasep.LEU156PROPITYRIASIS RUBRA PILARIS



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