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Results for the Protein: Q8NCE0
50428914

SEN2_HUMAN RecName: Full=tRNA-splicing endonuclease subunit Sen2; AltName: Full=tRNA-intron endonuclease Sen2; Short=HsSen2

Known Diseases associated with this Protein:
  PONTOCEREBELLAR HYPOPLASIA 2B (PCH2B)
  PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
2
2
1
2
1
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Default View:

SEN2 - COG1676
tRNA_int_endo_N - pfam02778
tRNA_int_endo - pfam01974


Swiss-Prot Protein: Q8NCE0
Identical to: NP_001138864, NP_079541
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
tRNA_int_endo_Npfam027784.5e-09267329
tRNA_int_endopfam019746.8e-19339431

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs33955793 Polymorphismp.ARG126HISN/A
dbSNPrs12495784 Polymorphismp.ARG41HISN/A
Swiss-ProtVAR_054810Diseasep.TYR309CYSPontocerebellar hypoplasia 2B (PCH2B)
OMIM608753.0001 Diseasep.TYR309CYSPONTOCEREBELLAR HYPOPLASIA, TYPE 2B



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