Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.K391K
Back to variants list

ABCG8

NM_022437.3:p.K391K

Associated Papers

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

Liver transplantation in a patient with sitosterolemia and cirrhosis.

Miettinen TA et al.

Gastroenterology, 2006

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

Lu K et al.

American Journal of Human Genetics, 2001

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."