The FAM122C gene homepage

NOTE: gene name changed from FAM122C to PABIR3
General information
Gene symbol FAM122C
Gene name family with sequence similarity 122C
Chromosome X
Chromosomal band q26.3
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_138819.3
Associated with diseases -
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 15
Unique public DNA variants reported 12
Individuals with public variants 4
Hidden variants 2
Download all this gene's data Download all data
Notes NOTE: gene name changed from FAM122C to PABIR3
This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated August 06, 2020
Version FAM122C:200806

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
Homepage URL https://www.LOVD.nl/PABIR3
HGNC 25202
Entrez Gene 159091
PubMed articles FAM122C
HGMD FAM122C
GeneCards FAM122C
GeneTests FAM122C
Orphanet FAM122C


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000748 X transcript variant 2 NM_138819.3 NP_620174.1 15


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