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Results for the Protein: Q8WYB5
143811424

KAT6B_HUMAN RecName: Full=Histone acetyltransferase KAT6B; AltName: Full=Histone acetyltransferase MOZ2; AltName: Full=MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; Short=MYST-4; AltName: Full=Monocytic leukemia zinc finger protein-related factor

Known Diseases associated with this Protein:
  GENITOPATELLAR SYNDROME
  SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME
4
4
4
0
4
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Default View:

H15 - smart00526
PHD - smart00249
PHD - pfam00628
SAS2 - COG5027
MOZ_SAS - pfam01853


Swiss-Prot Protein: Q8WYB5
Identical to: NP_036462
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PHDpfam006288.3e-07215272
PHDpfam006282.7e-14274320
SAS2COG50271.1e-105591987
MOZ_SASpfam018535.2e-133773960
H15smart005265.5e-2093169
PHDsmart002491.8e-05215269
PHDsmart002494.5e-12271317

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_061367Polymorphismp.ALA1217SERN/A
Swiss-ProtVAR_067315Polymorphismp.GLU360LYSN/A
Swiss-ProtVAR_036361Polymorphismp.THR483ALAN/A
Swiss-ProtVAR_050217Polymorphismp.VAL1499ILEN/A
OMIM605880.0012 Diseasep.ARG1797TERSAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME
OMIM605880.0004 Diseasep.GLU1357TERSAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME
OMIM605880.0009 Diseasep.GLY1268TERGENITOPATELLAR SYNDROME
OMIM605880.0008 Diseasep.GLY1298TERGENITOPATELLAR SYNDROME



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