Varaico: Literature-Extracted Genetic Variants

Gene:PRKCSH
Variant:p.A291T
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PRKCSH

NM_001289104.2:p.A291T

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

Systematic identification of single amino acid variants in glioma stem-cell-derived chromosome 19 proteins.

Lichti CF et al.

Journal of Proteome Research, 2015

Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.

Waanders E et al.

Human Mutation, 2006

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

Li A et al.

American Journal of Human Genetics, 2003

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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."