The PHF8 gene homepage

General information
Gene symbol PHF8
Gene name PHD finger protein 8
Chromosome X
Chromosomal band p11.22
Imprinted Unknown
Genomic reference NG_021309.1
Transcript reference NM_001184896.1, NM_015107.2
Associated with diseases ID, MRXSSD
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 63
Unique public DNA variants reported 54
Individuals with public variants 23
Hidden variants 13
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated May 09, 2022
Version PHF8:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 20672
Entrez Gene 23133
PubMed articles PHF8
OMIM - Gene 300560
OMIM - Diseases MRXSSD (mental retardation syndrome, X-linked, Siderius type (MRXSSD))
HGMD PHF8
GeneCards PHF8
GeneTests PHF8
Orphanet PHF8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025550 X transcript variant 1 NM_001184896.1 NP_001171825.1 60
00000047 X PHD finger protein 8, transcript variant 2 NM_015107.2 NP_055922.1 57


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