Varaico: Literature-Extracted Genetic Variants

Gene:EPPK1
Variant:p.R2239H
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EPPK1

NM_031308.4:p.R2239H

Associated Papers

Integrated cohort of esophageal squamous cell cancer reveals genomic features underlying clinical characteristics.

Li M et al.

Nature Communications, 2022

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Fu W et al.

Bmc Medical Genomics, 2021

34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS13

Whole exome sequencing study of a Chinese concurrent cancer family.

Yin Y et al.

Oncology Letters, 2019

Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.

Kutasovic JR et al.

The Journal of Pathology. Clinical Research, 2019

30246500 (PubMed )
Supplement: CJP2-5-25-s002.xlsx › SupTable_11__Sequencing_data

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder.

Zech M et al.

Cold Spring Harbor Molecular Case Studies, 2018

30262571 (PubMed )
Supplement: supp_mcs.a003293_Supplemental_Figures_Table.pdf

High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.

Tsukamoto T et al.

Scientific Reports, 2017

29070849 (PubMed )
Supplement: 41598_2017_14150_MOESM2_ESM.xlsx › Sheet1

Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.

Yi Z et al.

Scientific Reports, 2017

28729728 (PubMed )
Supplement: 41598_2017_6327_MOESM1_ESM.pdf

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Jiang L et al.

Plos Genetics, 2016

27093186 (PubMed )
Supplement: pgen.1005895.s019.xlsx › Sheet1

Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.

Cheng C et al.

Gigascience, 2016

26759717 (PubMed )
Supplement: 13742_2015_107_MOESM11_ESM.xlsx › SX104.TC.snv.indel

Single-cell mRNA sequencing identifies subclonal heterogeneity in anti-cancer drug responses of lung adenocarcinoma cells.

Kim KT et al.

Genome Biology, 2015

26084335 (PubMed )
Supplement: 13059_2015_692_MOESM2_ESM.xls › Pt_tumor

Genomic differences between pure ductal carcinoma in situ and synchronous ductal carcinoma in situ with invasive breast cancer.

Kim SY et al.

Oncotarget, 2015

25831047 (PubMed )
Supplement: oncotarget-06-7597-s002.xlsx › Table_S1

Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.

Zhang L et al.

American Journal of Human Genetics, 2015

25839328 (PubMed )
Supplement: mmc4.xlsx › Table_S3._Mutation_cohort

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf
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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."