Varaico: Literature-Extracted Genetic Variants

Gene:HK2
Variant:p.R353C
Back to variants list

HK2

NM_000189.5:p.R353C

Associated Papers

Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims.

Skarp S et al.

Journal of Cardiovascular Translational Research, 2024

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1013.391

Functional consequences of naturally occurring variants of human hexokinase II.

Malkki M et al.

Diabetologia, 1998

Amino acid substitutions in hexokinase II among patients with NIDDM.

Laakso M et al.

Diabetes, 1995

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."