View gene VPS13A

General information
Gene symbol VPS13A
Gene name vacuolar protein sorting 13 homolog A (S. cerevisiae)
Chromosome 9
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_008931.1
Transcript reference NM_015186.3, NM_033305.2
Associated with diseases Choreoacanthocytosis
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 65
Unique public DNA variants reported 63
Individuals with public variants 65
Hidden variants 0
Date created May 03, 2013
Date last updated April 02, 2015
Version VPS13A:150402

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 1908
Entrez Gene 23230
PubMed articles VPS13A
OMIM - Gene 605978
OMIM - Diseases Choreoacanthocytosis


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023859 9 transcript variant A NM_033305.2 NP_150648.2 65
00022633 9 transcript variant B NM_015186.3 NP_056001.1 0