Varaico: Literature-Extracted Genetic Variants

Gene:TKFC
Variant:p.A185T
Back to variants list

TKFC

NM_015533.4:p.A185T

Associated Papers

Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency.

Tremblay-Laganière C et al.

Journal of Medical Genetics, 2024

The TKFC Ala185Thr variant, reported as 'null' for fructose metabolism, is fully active as triokinase.

Ribeiro JM et al.

Febs Letters, 2022

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations.

Onoufriadis A et al.

The British Journal of Dermatology, 2021

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."