Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ12
Variant:p.S343L
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KCNJ12

NM_021012.5:p.S343L

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Somatic Mutational Profile of High-Grade Serous Ovarian Carcinoma and Triple-Negative Breast Carcinoma in Young and Elderly Patients: Similarities and Divergences.

Serio PAMP et al.

Cells, 2021

34944094 (PubMed )
Supplement: cells-10-03586-s001.zip › cells-1349475-supplementary › Supplementary_Tables.xlsx › Table_S4

Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.

Pandey K et al.

Genes, 2021

33504001 (PubMed )
Supplement: genes-12-00159-s001.zip › genes_-_1049728_-_supplementary › supplementary_tables.xlsx › STable1

Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature.

Ayres-Silva JP et al.

Frontiers in Oncology, 2018

29515972 (PubMed )
Supplement: table_1.xlsx › suppl_table_1

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Zeltner N et al.

Nature Medicine, 2016

27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Friedrich C et al.

Embo Molecular Medicine, 2014

24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf

Clonal architectures and driver mutations in metastatic melanomas.

Ding L et al.

Plos One, 2014

25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S10.xls › Supp_Table_10

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S3

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T et al.

Plos One, 2013

24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › gtl16_f40r3
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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."