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Results for the Protein: NP_001171826
296531351

histone lysine demethylase PHF8 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
3
0
3
0
0
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Default View:

PHD - smart00249
PHD - pfam00628
JmjC - smart00558
JmjC - pfam02373




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
JmjCpfam023733.3e-09234334
PHDsmart002499e-12753
JmjCsmart005584.1e-17199262

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300560.0002 Diseasep.ARG175TERSIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
OMIM300560.0003 Diseasep.LYS141TERSIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
OMIM300560.0004 Diseasep.PHE243SERSIDERIUS X-LINKED MENTAL RETARDATION SYNDROME



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