Varaico: Literature-Extracted Genetic Variants

Gene:HPGDS
Variant:p.K5R
Back to variants list

HPGDS

NM_014485.3:p.K5R

Associated Papers

Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex.

Kuehl J et al.

The Journal of Clinical Investigation, 2025

40232843 (PubMed )
Supplement: jci-135-187323-s250.pdf

Implications of single nucleotide polymorphisms in CD44 exon 2 for risk of breast cancer.

Zhou J et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2011

Mutational analysis of H3 and H4 N termini reveals distinct roles in nuclear import.

Blackwell JS et al.

The Journal of Biological Chemistry, 2007

Different sensitivities of bromodomain factors 1 and 2 to histone H4 acetylation.

Matangkasombut O et al.

Molecular Cell, 2003

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."