Varaico: Literature-Extracted Genetic Variants

Gene:ABCC4
Variant:p.K498E
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ABCC4

NM_005845.5:p.K498E

Associated Papers

The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.

Pittman M et al.

Genome Research, 2026

41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Kelly L et al.

Protein Science : a Publication of the Protein Society, 2010

The human multidrug resistance protein 4 (MRP4, ABCC4): functional analysis of a highly polymorphic gene.

Abla N et al.

The Journal of Pharmacology and Experimental Therapeutics, 2008

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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."