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Results for the Protein: NP_861427
32967276

ubiquitin-conjugating enzyme E2 A isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
3
0
3
0
0
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Default View:

COG5078 - COG5078
UBCc - cd00195
UBCc - smart00212
UQ_con - pfam00179


RefSeq Protein: NP_861427
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5078COG50783.5e-431121
UQ_conpfam001791.7e-368115
UBCcsmart002123.2e-257119

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM312180.0003 Diseasep.ARG11GLNMENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
OMIM312180.0001 Diseasep.GLN98TERMENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
OMIM312180.0002 Diseasep.GLY23ARGMENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE



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