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Results for the Protein: Q9BSV6
50401668

SEN34_HUMAN RecName: Full=tRNA-splicing endonuclease subunit Sen34; AltName: Full=Leukocyte receptor cluster member 5; AltName: Full=tRNA-intron endonuclease Sen34; Short=HsSen34

Known Diseases associated with this Protein:
  PONTOCEREBELLAR HYPOPLASIA 2C (PCH2C)
1
1
0
0
2
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Default View:

SEN2 - COG1676
tRNA_int_endo - pfam01974


Swiss-Prot Protein: Q9BSV6
Identical to: NP_001070914, NP_076980
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SEN2COG16764.3e-09113309
tRNA_int_endopfam019743.2e-33217301

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054811Diseasep.ARG58TRPPontocerebellar hypoplasia 2C (PCH2C)
Swiss-ProtVAR_061149Polymorphismp.LEU112VALN/A



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