The TPK1 gene homepage

General information
Gene symbol TPK1
Gene name thiamin pyrophosphokinase 1
Chromosome 7
Chromosomal band q34-q35
Imprinted Unknown
Genomic reference NG_032112.1
Transcript reference NM_022445.3
Associated with diseases THMD5
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 7
Unique public DNA variants reported 4
Individuals with public variants 5
Hidden variants -
Date created May 03, 2013
Date last updated June 23, 2020
Version TPK1:200623

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 17358
Entrez Gene 27010
PubMed articles TPK1
OMIM - Gene 606370
OMIM - Diseases THMD5 (Thiamine metabolism dysfunction syndrome, type 5 (episodic encephalopathy type) (THMD-5))
Orphanet TPK1

Active transcripts




NCBI ID     

NCBI Protein ID     

00021689 7 transcript variant 1 NM_022445.3 NP_071890.2 7

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