Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.K219N
Back to variants list

GAPDH

NM_002046.7:p.K219N

Associated Papers

Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expression.

Stapley RJ et al.

The Journal of Clinical Investigation, 2025

40794453 (PubMed )
Supplement: jci-135-189100-s054.xlsx › FIG_1A_P-Syk525_526_

Novel mutation SLFN14 T853fs associated with inherited macrothrombocytopenia.

Xie H et al.

Molecular Therapy. Nucleic Acids, 2025

PIP2-dependent coupling of voltage sensor and pore domains in Kv7.2 channel.

Pant S et al.

Communications Biology, 2021

34650221 (PubMed )
Supplement: 42003_2021_2729_MOESM1_ESM.pdf
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."