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Results for the Protein: P07954
1730117
FH

FUMH_HUMAN RecName: Full=Fumarate hydratase, mitochondrial; Short=Fumarase; Flags: Precursor

Known Diseases associated with this Protein:
  FUMARASE DEFICIENCY
  FUMARASE DEFICIENCY (FHD)
  HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
  HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (HLRCC)
20
0
9
0
11
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FumaraseC_C - pfam10415


Swiss-Prot Protein: P07954
Identical to: NP_000134
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FumaraseC_Cpfam104151.3e-37455509

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013498Diseasep.ALA117PROHereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-ProtVAR_002446Diseasep.ALA308THRFumarase deficiency (FHD)
Swiss-ProtVAR_013501Diseasep.ARG233HISHereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-ProtVAR_013497Diseasep.ASN107THRHereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-ProtVAR_002448Diseasep.ASP425VALFumarase deficiency (FHD)
Swiss-ProtVAR_013500Diseasep.GLN185ARGHereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-ProtVAR_013502Diseasep.GLY282VALHereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-ProtVAR_013499Diseasep.HIS180ARGHereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-ProtVAR_002445Diseasep.LYS230ARGHereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-ProtVAR_013503Diseasep.MET328ARGHereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-ProtVAR_002447Diseasep.PHE312CYSFumarase deficiency (FHD)
OMIM136850.0001 Diseasep.ALA265THRFUMARASE DEFICIENCY
OMIM136850.0007 Diseasep.ARG190HISHEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM136850.0008 Diseasep.ARG190LEUHEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM136850.0009 Diseasep.ARG58PROHEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM136850.0006 Diseasep.ARG300TERHEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM136850.0003 Diseasep.ARG58TERHEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM136850.0004 Diseasep.ASN64THRHEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM136850.0002 Diseasep.GLU319GLNFUMARASE DEFICIENCY
OMIM136850.0010 Diseasep.PRO174ARGFUMARASE DEFICIENCY



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