The VPS13D gene homepage

General information
Gene symbol VPS13D
Gene name vacuolar protein sorting 13 homolog D (S. cerevisiae)
Chromosome 1
Chromosomal band p36.21
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_015378.2
Exon/intron information NM_015378.2 exon/intron table
Associated with diseases SCAR4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Inge Meijer
Total number of public variants reported 125
Unique public DNA variants reported 98
Individuals with public variants 28
Hidden variants 6
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated February 26, 2024
Version VPS13D:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015378.2.
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/VPS13D
HGNC 23595
Entrez Gene 55187
PubMed articles VPS13D
OMIM - Gene 608877
OMIM - Diseases SCAR4 (Spinocerebellar ataxia, autosomal recessive 4)
HGMD VPS13D
GeneCards VPS13D
GeneTests VPS13D
Orphanet VPS13D


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022637 1 transcript variant 1 NM_015378.2 NP_056193.2 125


Copyright & disclaimer
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