Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA3
Variant:p.L23del1
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CHRNA3

NM_000743.5:p.L23del1

Associated Papers

Negative Selection Maintains Grossly Altered but Broadly Stable Karyotypes in Metastatic Colorectal Cancer.

Cross WCH et al.

Cancer Discovery, 2026

41563072 (PubMed )
Supplement: cd-24-0813_supplementary_table_7_suppst7.xlsx › C277

In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.

Kasai S et al.

Pediatric Blood & Cancer, 2024

38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs

Durable response of lung carcinoma patients to EGFR tyrosine kinase inhibitors is determined by germline polymorphisms in some immune-related genes.

Dalens L et al.

Molecular Cancer, 2023

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.

Yang Y et al.

Pediatric Investigation, 2021

34589676 (PubMed )
Supplement: PED4-5-211-s001.pdf

Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.

López-Cortés A et al.

Bmc Medical Genomics, 2020

32807182 (PubMed )
Supplement: 12920_2020_764_MOESM4_ESM.xlsx › Table_S4

Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2.

Zhou B et al.

Nucleic Acids Research, 2019

30864654 (PubMed )
Supplement: gkz169_supplemental_files.zip › Table_S5_-_HepG2___COSMIC_Overlap.xlsx › Indels

Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562.

Zhou B et al.

Genome Research, 2019

30737237 (PubMed )
Supplement: supp_gr.234948.118_Supplemental_Table_S6.xlsx › Indels

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

MHC class II restricted neoantigen peptides predicted by clonal mutation analysis in lung adenocarcinoma patients: implications on prognostic immunological biomarker and vaccine design.

Cai W et al.

Bmc Genomics, 2018

30075702 (PubMed )
Supplement: 12864_2018_4958_MOESM4_ESM.xlsx › Supplementary_Table_4

High throughput gene sequencing reveals altered landscape in DNA damage responses and chromatin remodeling in sporadic pancreatic neuroendocrine tumors.

Ji S et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2018

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Bhattacharya S et al.

Genome Research, 2018

29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › M121224

Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.

Alaei MR et al.

Iranian Biomedical Journal, 2016

Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.

Gnad F et al.

Bmc Genomics, 2015

26110843 (PubMed )
Supplement: 1471-2164-16-S8-S5-S7.xls › RecurrentMutations
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