The RFXAP gene homepage

General information
Gene symbol RFXAP
Gene name regulatory factor X-associated protein
Chromosome 13
Chromosomal band q14
Imprinted Unknown
Genomic reference LRG_103
Transcript reference NM_000538.3
Associated with diseases SCID due to absent class II HLA antigens
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 14
Unique public DNA variants reported 12
Individuals with public variants 80
Hidden variants 0
Date created May 03, 2013
Date last updated September 15, 2020
Version RFXAP:200915

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 9988
Entrez Gene 5994
PubMed articles RFXAP
OMIM - Gene 601861
OMIM - Diseases SCID due to absent class II HLA antigens


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017680 13 regulatory factor X-associated protein NM_000538.3 NP_000529.1 14


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