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Results for the Protein: P07992
119538

ERCC1_HUMAN RecName: Full=DNA excision repair protein ERCC-1

Known Diseases associated with this Protein:
  CEREBRO-OCULO-FACIO-SKELETAL SYNDROME 4 (COFS4)
  CEREBROOCULOFACIOSKELETAL SYNDROME 4
3
1
2
0
2
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Default View:

RAD10 - COG5241
Rad10 - pfam03834
HHH - pfam00633


Swiss-Prot Protein: P07992
Identical to: NP_001974
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RAD10COG52418.4e-5472294
Rad10pfam038344.4e-4699166
HHHpfam006332.2e-06259288

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019167Polymorphismp.ALA266THRN/A
Swiss-ProtVAR_032776Diseasep.PHE231LEUCerebro-oculo-facio-skeletal syndrome 4 (COFS4)
OMIM126380.0001 Diseasep.GLN158TERCEREBROOCULOFACIOSKELETAL SYNDROME 4
OMIM126380.0002 Diseasep.PHE231LEUCEREBROOCULOFACIOSKELETAL SYNDROME 4



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