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Results for the Protein: Q9Y5Q3
21759268

MAFB_HUMAN RecName: Full=Transcription factor MafB; Short=Maf-B; AltName: Full=V-maf musculoaponeurotic fibrosarcoma oncogene homolog B

Known Diseases associated with this Protein:
  MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
  MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (MCTO)
16
0
6
0
10
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Default View:

Maf_N - pfam08383
BRLZ - smart00338


Swiss-Prot Protein: Q9Y5Q3
Identical to: NP_005452
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Maf_Npfam083834e-2180114
BRLZsmart003381.3e-11236300

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067982Diseasep.PRO63ARGMulticentric carpotarsal osteolysis syndrome (MCTO)
Swiss-ProtVAR_067980Diseasep.PRO59LEUMulticentric carpotarsal osteolysis syndrome (MCTO)
Swiss-ProtVAR_067987Diseasep.PRO71LEUMulticentric carpotarsal osteolysis syndrome (MCTO)
Swiss-ProtVAR_067988Diseasep.PRO71SERMulticentric carpotarsal osteolysis syndrome (MCTO)
Swiss-ProtVAR_067985Diseasep.SER70ALAMulticentric carpotarsal osteolysis syndrome (MCTO)
Swiss-ProtVAR_067983Diseasep.SER66CYSMulticentric carpotarsal osteolysis syndrome (MCTO)
Swiss-ProtVAR_067979Diseasep.SER54LEUMulticentric carpotarsal osteolysis syndrome (MCTO)
Swiss-ProtVAR_067984Diseasep.SER69LEUMulticentric carpotarsal osteolysis syndrome (MCTO)
Swiss-ProtVAR_067986Diseasep.SER70LEUMulticentric carpotarsal osteolysis syndrome (MCTO)
Swiss-ProtVAR_067981Diseasep.THR62PROMulticentric carpotarsal osteolysis syndrome (MCTO)
OMIM608968.0006 Diseasep.PRO54LEUMULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
OMIM608968.0005 Diseasep.PRO71LEUMULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
OMIM608968.0004 Diseasep.PRO71SERMULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
OMIM608968.0002 Diseasep.SER70ALAMULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
OMIM608968.0003 Diseasep.SER70LEUMULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
OMIM608968.0001 Diseasep.THR62PROMULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME



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