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Results for the Protein: NP_056161
38202205

zinc finger FYVE domain-containing protein 26 [Homo sapiens]

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
3
8
3
8
0
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Default View:

FYVE - smart00064
FYVE - pfam01363
FYVE - cd00065


RefSeq Protein: NP_056161
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FYVEpfam013639.5e-2418071873
FYVEsmart000641.6e-2618061873

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3742884 Polymorphismp.ALA1122VALN/A
dbSNPrs3742883 Polymorphismp.ASN1891SERN/A
dbSNPrs2235967 Polymorphismp.CYS1457TYRN/A
dbSNPrs34059852 Polymorphismp.LYS429GLUN/A
dbSNPrs3742885 Polymorphismp.PRO1103LEUN/A
dbSNPrs112787369 Polymorphismp.SER1040THRN/A
dbSNPrs35471427 Polymorphismp.THR951METN/A
dbSNPrs17192170 Polymorphismp.THR898SERN/A
OMIM612012.0001 Diseasep.ARG1438TERSPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
OMIM612012.0006 Diseasep.GLN1808TERSPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
OMIM612012.0004 Diseasep.GLN493TERSPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE



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